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Volumn , Issue , 2011, Pages 642-660

Periodic fever syndromes and other inherited autoinflammatory diseases

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EID: 84882513079     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-6581-4.10043-3     Document Type: Chapter
Times cited : (11)

References (357)
  • 2
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott M.F., Aksentijevich I., Galon J., et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999, 97:133-144.
    • (1999) Cell , vol.97 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3
  • 4
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease
    • Masters S.L., Simon A., Aksentijevich I., et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 2009, 27:621-668.
    • (2009) Annu. Rev. Immunol. , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3
  • 5
    • 66649121678 scopus 로고    scopus 로고
    • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    • Aksentijevich I., Masters S.L., Ferguson P.J., et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N. Engl. J. Med. 2009, 360:2426-2437.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2426-2437
    • Aksentijevich, I.1    Masters, S.L.2    Ferguson, P.J.3
  • 6
    • 66649113371 scopus 로고    scopus 로고
    • An autoinflammatory disease due to homozygous deletion of the IL1RN locus
    • Reddy S., Jia S., Geoffrey R., et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N. Engl. J. Med. 2009, 360:2438-2444.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2438-2444
    • Reddy, S.1    Jia, S.2    Geoffrey, R.3
  • 7
    • 0030745449 scopus 로고    scopus 로고
    • Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • International F.M.F. Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997, 90:797-807.
    • (1997) Cell , vol.90 , pp. 797-807
    • International, F.M.F.1
  • 8
    • 16944365196 scopus 로고    scopus 로고
    • Consortium: a candidate gene for familial Mediterranean fever
    • French F.M.F. Consortium: a candidate gene for familial Mediterranean fever. Nat. Genet. 1997, 17:25-31.
    • (1997) Nat. Genet. , vol.17 , pp. 25-31
    • French, F.M.F.1
  • 9
    • 18244429610 scopus 로고    scopus 로고
    • Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich I., Torosyan Y., Samuels J., et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 1999, 64:949-962.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 10
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • Chae J.J., Wood G., Masters S.L., et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:9982-9987.
    • (2006) Proc. Natl. Acad. Sci. U.S.A. , vol.103 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3
  • 11
    • 66449096202 scopus 로고    scopus 로고
    • Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
    • Booty M.G., Chae J.J., Masters S.L., et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit?. Arthritis Rheum. 2009, 60:1851-1861.
    • (2009) Arthritis Rheum. , vol.60 , pp. 1851-1861
    • Booty, M.G.1    Chae, J.J.2    Masters, S.L.3
  • 12
    • 0014118417 scopus 로고
    • Familial Mediterranean fever. a survey of 470 cases and review of the literature
    • Sohar E., Gafni J., Pras M., et al. Familial Mediterranean fever. a survey of 470 cases and review of the literature. Am. J. Med. 1967, 43:227-253.
    • (1967) Am. J. Med. , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3
  • 13
    • 0016201740 scopus 로고
    • Familial Mediterranean Fever in Armenians, Analysis of 100 cases
    • Schwabe A.D., Peters R.S. Familial Mediterranean Fever in Armenians, Analysis of 100 cases. Medicine (Baltimore) 1974, 53:453-462.
    • (1974) Medicine (Baltimore) , vol.53 , pp. 453-462
    • Schwabe, A.D.1    Peters, R.S.2
  • 14
    • 0032990556 scopus 로고    scopus 로고
    • Familial Mediterranean fever in children: the expanded clinical profile
    • Majeed H.A., Rawashdeh M., el-Shanti H., et al. Familial Mediterranean fever in children: the expanded clinical profile. Q. J. Med. 1999, 92:309-318.
    • (1999) Q. J. Med. , vol.92 , pp. 309-318
    • Majeed, H.A.1    Rawashdeh, M.2    el-Shanti, H.3
  • 15
    • 34248571365 scopus 로고    scopus 로고
    • Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
    • Touitou I., Sarkisian T., Medlej-Hashim M., et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007, 56:1706-1712.
    • (2007) Arthritis Rheum. , vol.56 , pp. 1706-1712
    • Touitou, I.1    Sarkisian, T.2    Medlej-Hashim, M.3
  • 16
    • 4143125654 scopus 로고    scopus 로고
    • Infevers: an evolving mutation database for auto-inflammatory syndromes
    • Touitou I., Lesage S., McDermott M., et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum. Mutat. 2004, 24:194-198.
    • (2004) Hum. Mutat. , vol.24 , pp. 194-198
    • Touitou, I.1    Lesage, S.2    McDermott, M.3
  • 18
    • 0034926933 scopus 로고    scopus 로고
    • The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    • Aksentijevich I., Galon J., Soares M., et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am. J. Hum. Genet. 2001, 69:301-314.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3
  • 19
    • 38849160958 scopus 로고    scopus 로고
    • Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome
    • Kimberley F.C., Lobito A.A., Siegel R.M., et al. Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res. Ther. 2007, 9:217.
    • (2007) Arthritis Res. Ther. , vol.9 , pp. 217
    • Kimberley, F.C.1    Lobito, A.A.2    Siegel, R.M.3
  • 20
    • 33746971927 scopus 로고    scopus 로고
    • Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function
    • Rebelo S.L., Bainbridge S.E., Amel-Kashipaz M.R., et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum. 2006, 54:2674-2687.
    • (2006) Arthritis Rheum. , vol.54 , pp. 2674-2687
    • Rebelo, S.L.1    Bainbridge, S.E.2    Amel-Kashipaz, M.R.3
  • 21
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    • Hull K.M., Drewe E., Aksentijevich I., et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002, 81:349-368.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3
  • 22
    • 0037295409 scopus 로고    scopus 로고
    • Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients
    • Drewe E., McDermott E.M., Powell P.T., et al. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 2003, 42:235-239.
    • (2003) Rheumatology (Oxford) , vol.42 , pp. 235-239
    • Drewe, E.1    McDermott, E.M.2    Powell, P.T.3
  • 23
    • 43949128071 scopus 로고    scopus 로고
    • Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
    • Gattorno M., Pelagatti M.A., Meini A., et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008, 58:1516-1520.
    • (2008) Arthritis Rheum. , vol.58 , pp. 1516-1520
    • Gattorno, M.1    Pelagatti, M.A.2    Meini, A.3
  • 24
    • 0021287627 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever: a new syndrome
    • van der Meer J.W., Vossen J.M., Radl J., et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984, 1:1087-1090.
    • (1984) Lancet , vol.1 , pp. 1087-1090
    • van der Meer, J.W.1    Vossen, J.M.2    Radl, J.3
  • 25
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth J.P., Cuisset L., Grateau G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat. Genet. 1999, 22:178-181.
    • (1999) Nat. Genet. , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3
  • 26
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten S.M., Kuis W., Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat. Genet. 1999, 22:175-177.
    • (1999) Nat. Genet. , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3
  • 27
    • 58149195381 scopus 로고    scopus 로고
    • Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    • van der Hilst J.C., Bodar E.J., Barron K.S., et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008, 87:301-310.
    • (2008) Medicine (Baltimore) , vol.87 , pp. 301-310
    • van der Hilst, J.C.1    Bodar, E.J.2    Barron, K.S.3
  • 28
    • 0023894493 scopus 로고
    • A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome, A specific entity analysed in 30 patients
    • Prieur A.M., Griscelli C., Lampert F., et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome, A specific entity analysed in 30 patients. Scand. J. Rheumatol. 1987, 66(Suppl):57-68.
    • (1987) Scand. J. Rheumatol. , vol.66 , Issue.SUPPL. , pp. 57-68
    • Prieur, A.M.1    Griscelli, C.2    Lampert, F.3
  • 29
    • 0034774916 scopus 로고    scopus 로고
    • Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever
    • Hoffman H.M., Wanderer A.A., Broide D.H. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J. Allergy Clin. Immunol. 2001, 108:615-620.
    • (2001) J. Allergy Clin. Immunol. , vol.108 , pp. 615-620
    • Hoffman, H.M.1    Wanderer, A.A.2    Broide, D.H.3
  • 30
    • 0001380014 scopus 로고
    • RH: A case of cold urticaria with unusual family history
    • Kyle R.I. RH: A case of cold urticaria with unusual family history. JAMA 1940, 114:1067.
    • (1940) JAMA , vol.114 , pp. 1067
    • Kyle, R.I.1
  • 31
    • 0035179970 scopus 로고    scopus 로고
    • Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
    • Hoffman H.M., Mueller J.L., Broide D.H., et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat. Genet. 2001, 29:301-305.
    • (2001) Nat. Genet. , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3
  • 32
    • 73649189052 scopus 로고
    • Wellsm: Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome
    • Muckle T.J. Wellsm: Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q. J. Med. 1962, 31:235-248.
    • (1962) Q. J. Med. , vol.31 , pp. 235-248
    • Muckle, T.J.1
  • 33
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    • Aksentijevich I., C DP, Remmers E.F., et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007, 56:1273-1285.
    • (2007) Arthritis Rheum. , vol.56 , pp. 1273-1285
    • Aksentijevich, I.1    Remmers, E.F.2
  • 34
    • 12144288979 scopus 로고    scopus 로고
    • Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
    • Neven B., Callebaut I., Prieur A.M., et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004, 103:2809-2815.
    • (2004) Blood , vol.103 , pp. 2809-2815
    • Neven, B.1    Callebaut, I.2    Prieur, A.M.3
  • 35
    • 0019425358 scopus 로고
    • Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
    • Prieur A.M., Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J. Pediatr. 1981, 99:79-83.
    • (1981) J. Pediatr. , vol.99 , pp. 79-83
    • Prieur, A.M.1    Griscelli, C.2
  • 36
    • 0020631580 scopus 로고
    • Neonatal onset multisystem inflammatory disease
    • Hassink S.G., Goldsmith D.P. Neonatal onset multisystem inflammatory disease. Arthritis Rheum. 1983, 26:668-673.
    • (1983) Arthritis Rheum. , vol.26 , pp. 668-673
    • Hassink, S.G.1    Goldsmith, D.P.2
  • 37
    • 0036899758 scopus 로고    scopus 로고
    • De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases
    • Aksentijevich I., Nowak M., Mallah M., et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002, 46:3340-3348.
    • (2002) Arthritis Rheum. , vol.46 , pp. 3340-3348
    • Aksentijevich, I.1    Nowak, M.2    Mallah, M.3
  • 38
    • 33746876396 scopus 로고    scopus 로고
    • Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    • Goldbach-Mansky R., Dailey N.J., Canna S.W., et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N. Engl. J. Med. 2006, 355:581-592.
    • (2006) N. Engl. J. Med. , vol.355 , pp. 581-592
    • Goldbach-Mansky, R.1    Dailey, N.J.2    Canna, S.W.3
  • 39
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • Feldmann J., Prieur A.M., Quartier P., et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet. 2002, 71:198-203.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3
  • 40
    • 49449094179 scopus 로고    scopus 로고
    • Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies
    • Hoffman H.M., Throne M.L., Amar N.J., et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008, 58:2443-2452.
    • (2008) Arthritis Rheum. , vol.58 , pp. 2443-2452
    • Hoffman, H.M.1    Throne, M.L.2    Amar, N.J.3
  • 41
    • 66649102432 scopus 로고    scopus 로고
    • Use of canakinumab in the cryopyrin-associated periodic syndrome
    • Lachmann H.J., Kone-Paut I., Kuemmerle-Deschner J.B., et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N. Engl. J. Med. 2009, 360:2416-2425.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2416-2425
    • Lachmann, H.J.1    Kone-Paut, I.2    Kuemmerle-Deschner, J.B.3
  • 42
    • 0037792866 scopus 로고    scopus 로고
    • Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
    • Hawkins P.N., Lachmann H.J., McDermott M.F. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N. Engl. J. Med. 2003, 348:2583-2584.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 2583-2584
    • Hawkins, P.N.1    Lachmann, H.J.2    McDermott, M.F.3
  • 43
    • 0023230159 scopus 로고
    • Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
    • Marshall G.S., Edwards K.M., Butler J., et al. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J. Pediatr. 1987, 110:43-46.
    • (1987) J. Pediatr. , vol.110 , pp. 43-46
    • Marshall, G.S.1    Edwards, K.M.2    Butler, J.3
  • 44
    • 0033497857 scopus 로고    scopus 로고
    • Periodic fever syndrome in children
    • Thomas K.T., Feder H.M., Lawton A.R., et al. Periodic fever syndrome in children. J. Pediatr. 1999, 135:15-21.
    • (1999) J. Pediatr. , vol.135 , pp. 15-21
    • Thomas, K.T.1    Feder, H.M.2    Lawton, A.R.3
  • 45
    • 0034076130 scopus 로고    scopus 로고
    • Jr., Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome
    • Feder H.M. Jr., Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Curr. Opin. Pediatr. 2000, 12:253-256.
    • (2000) Curr. Opin. Pediatr. , vol.12 , pp. 253-256
    • Feder, H.M.1
  • 46
    • 34548050230 scopus 로고    scopus 로고
    • A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome
    • Renko M., Salo E., Putto-Laurila A., et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J. Pediatr. 2007, 151:289-292.
    • (2007) J. Pediatr. , vol.151 , pp. 289-292
    • Renko, M.1    Salo, E.2    Putto-Laurila, A.3
  • 47
    • 67651085319 scopus 로고    scopus 로고
    • Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study
    • Garavello W., Romagnoli M., Gaini R.M. Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study. J. Pediatr. 2009, 155:250-253.
    • (2009) J. Pediatr. , vol.155 , pp. 250-253
    • Garavello, W.1    Romagnoli, M.2    Gaini, R.M.3
  • 48
    • 0027403301 scopus 로고
    • Cyclic neutropenia: natural history and effects of long-term treatment with recombinant human granulocyte colony-stimulating factor
    • Dale D.C., Bolyard A.A., Hammond W.P. Cyclic neutropenia: natural history and effects of long-term treatment with recombinant human granulocyte colony-stimulating factor. Cancer Invest. 1993, 11:219-223.
    • (1993) Cancer Invest. , vol.11 , pp. 219-223
    • Dale, D.C.1    Bolyard, A.A.2    Hammond, W.P.3
  • 49
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale D.C., Person R.E., Bolyard A.A., et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000, 96:2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3
  • 50
    • 0344823965 scopus 로고    scopus 로고
    • Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    • Shoham N.G., Centola M., Mansfield E., et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:13501-13506.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 13501-13506
    • Shoham, N.G.1    Centola, M.2    Mansfield, E.3
  • 54
    • 69049085064 scopus 로고    scopus 로고
    • Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy
    • Chae J.J., Aksentijevich I., Kastner D.L. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br. J. Haematol. 2009, 146:467-478.
    • (2009) Br. J. Haematol. , vol.146 , pp. 467-478
    • Chae, J.J.1    Aksentijevich, I.2    Kastner, D.L.3
  • 55
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott M.F., Aksentijevich I., Galon J., et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999, 97:133-144.
    • (1999) Cell , vol.97 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3
  • 57
    • 33748367018 scopus 로고    scopus 로고
    • A proposed classification of the immunological diseases
    • McGonagle D., McDermott M.F. A proposed classification of the immunological diseases. PLoS. Med. 2006, 3:e297.
    • (2006) PLoS. Med. , vol.3
    • McGonagle, D.1    McDermott, M.F.2
  • 58
    • 67650736238 scopus 로고    scopus 로고
    • Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease
    • Masters S.L., Simon A., Aksentijevich I., et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 2009, 27:621-668.
    • (2009) Annu. Rev. Immunol. , vol.27 , pp. 621-668
    • Masters, S.L.1    Simon, A.2    Aksentijevich, I.3
  • 59
    • 66649121678 scopus 로고    scopus 로고
    • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    • Aksentijevich I., Masters S.L., Ferguson P.J., et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N. Engl. J. Med. 2009, 360:2426-2437.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2426-2437
    • Aksentijevich, I.1    Masters, S.L.2    Ferguson, P.J.3
  • 60
    • 66649113371 scopus 로고    scopus 로고
    • An autoinflammatory disease due to homozygous deletion of the IL1RN locus
    • Reddy S., Jia S., Geoffrey R., et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N. Engl. J. Med. 2009, 360:2438-2444.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2438-2444
    • Reddy, S.1    Jia, S.2    Geoffrey, R.3
  • 61
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • Agostini L., Martinon F., Burns K., et al. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004, 20:319-325.
    • (2004) Immunity , vol.20 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3
  • 62
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • International FMF Consortium
    • International FMF Consortium Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997, 90:797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 63
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French FMF Consortium
    • French FMF Consortium A candidate gene for familial Mediterranean fever. Nat. Genet. 1997, 17:25-31.
    • (1997) Nat. Genet. , vol.17 , pp. 25-31
  • 64
    • 0031814513 scopus 로고    scopus 로고
    • Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
    • Samuels J., Aksentijevich I., Torosyan Y., et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998, 77:268-297.
    • (1998) Medicine (Baltimore) , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3
  • 65
    • 18244429610 scopus 로고    scopus 로고
    • Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich I., Torosyan Y., Samuels J., et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am. J. Hum. Genet. 1999, 64:949-962.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 66
    • 0034091243 scopus 로고    scopus 로고
    • Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
    • Stoffman N., Magal N., Shohat T., et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur. J. Hum. Genet. 2000, 8:307-310.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 307-310
    • Stoffman, N.1    Magal, N.2    Shohat, T.3
  • 67
    • 0034887980 scopus 로고    scopus 로고
    • Familial Mediterranean fever: prevalence, penetrance and genetic drift
    • Gershoni-Baruch R., Shinawi M., Leah K., et al. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur. J. Hum. Genet. 2001, 9:634-637.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 634-637
    • Gershoni-Baruch, R.1    Shinawi, M.2    Leah, K.3
  • 68
    • 0035882523 scopus 로고    scopus 로고
    • Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
    • Kogan A., Shinar Y., Lidar M., et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am. J. Med. Genet. 2001, 102:272-276.
    • (2001) Am. J. Med. Genet. , vol.102 , pp. 272-276
    • Kogan, A.1    Shinar, Y.2    Lidar, M.3
  • 69
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E., Ozen S., Balci B., et al. Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur. J. Hum. Genet. 2001, 9:553-555.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 553-555
    • Yilmaz, E.1    Ozen, S.2    Balci, B.3
  • 70
    • 0343674694 scopus 로고    scopus 로고
    • Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
    • Dode C., Pecheux C., Cazeneuve C., et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am. J. Med. Genet. 2000, 92:241-246.
    • (2000) Am. J. Med. Genet. , vol.92 , pp. 241-246
    • Dode, C.1    Pecheux, C.2    Cazeneuve, C.3
  • 71
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of familial Mediterranean fever (FMF) mutations
    • Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur. J. Hum. Genet. 2001, 9:473-483.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 473-483
    • Touitou, I.1
  • 72
    • 0036016985 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
    • Deltas C.C., Mean R., Rossou E., et al. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet. Test 2002, 6:15-21.
    • (2002) Genet. Test , vol.6 , pp. 15-21
    • Deltas, C.C.1    Mean, R.2    Rossou, E.3
  • 73
    • 0035990330 scopus 로고    scopus 로고
    • Familial Mediterranean fever in 2 Japanese families
    • Shinozaki K., Agematsu K., Yasui K., et al. Familial Mediterranean fever in 2 Japanese families. J. Rheumatol. 2002, 29:1324-1325.
    • (2002) J. Rheumatol. , vol.29 , pp. 1324-1325
    • Shinozaki, K.1    Agematsu, K.2    Yasui, K.3
  • 74
    • 0037405561 scopus 로고    scopus 로고
    • Familial Mediterranean fever associated pyrin mutations in Greece
    • Konstantopoulos K., Kanta A., Deltas C., et al. Familial Mediterranean fever associated pyrin mutations in Greece. Ann. Rheum. Dis. 2003, 62:479-481.
    • (2003) Ann. Rheum. Dis. , vol.62 , pp. 479-481
    • Konstantopoulos, K.1    Kanta, A.2    Deltas, C.3
  • 75
    • 0037262046 scopus 로고    scopus 로고
    • Familial Mediterranean fever is no longer a rare disease in Italy
    • La Regina M., Nucera G., Diaco M., et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur. J. Hum. Genet. 2003, 11:50-56.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 50-56
    • La Regina, M.1    Nucera, G.2    Diaco, M.3
  • 76
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E., Levy M. Familial Mediterranean fever. Lancet 1998, 351:659-664.
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 77
    • 8444230096 scopus 로고    scopus 로고
    • Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever
    • Diaz A., Hu C., Kastner D.L., et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum. 2004, 50:3679-3689.
    • (2004) Arthritis Rheum. , vol.50 , pp. 3679-3689
    • Diaz, A.1    Hu, C.2    Kastner, D.L.3
  • 78
    • 0034520137 scopus 로고    scopus 로고
    • The PYRIN domain: a novel motif found in apoptosis and inflammation proteins
    • Bertin J., DiStefano P.S. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. Cell Death Differ. 2000, 7:1273-1274.
    • (2000) Cell Death Differ. , vol.7 , pp. 1273-1274
    • Bertin, J.1    DiStefano, P.S.2
  • 79
    • 0034857603 scopus 로고    scopus 로고
    • The PYRIN domain: a member of the death domain-fold superfamily
    • Fairbrother W.J., Gordon N.C., Humke E.W., et al. The PYRIN domain: a member of the death domain-fold superfamily. Protein Sci. 2001, 10:1911-1918.
    • (2001) Protein Sci. , vol.10 , pp. 1911-1918
    • Fairbrother, W.J.1    Gordon, N.C.2    Humke, E.W.3
  • 80
    • 0035189451 scopus 로고    scopus 로고
    • A fever gene comes in from the cold
    • Kastner D.L., O'Shea J.J. A fever gene comes in from the cold. Nat. Genet. 2001, 29:241-242.
    • (2001) Nat. Genet. , vol.29 , pp. 241-242
    • Kastner, D.L.1    O'Shea, J.J.2
  • 81
    • 0035916324 scopus 로고    scopus 로고
    • The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation
    • Martinon F., Hofmann K., Tschopp J. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr. Biol. 2001, 11:R118-R120.
    • (2001) Curr. Biol. , vol.11
    • Martinon, F.1    Hofmann, K.2    Tschopp, J.3
  • 82
    • 0035253123 scopus 로고    scopus 로고
    • PAAD: a new protein domain associated with apoptosis, cancer and autoimmune diseases
    • Pawlowski K., Pio F., Chu Z., et al. PAAD: a new protein domain associated with apoptosis, cancer and autoimmune diseases. Trends. Biochem. Sci. 2001, 26:85-87.
    • (2001) Trends. Biochem. Sci. , vol.26 , pp. 85-87
    • Pawlowski, K.1    Pio, F.2    Chu, Z.3
  • 83
    • 0035914452 scopus 로고    scopus 로고
    • Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
    • Richards N., Schaner P., Diaz A., et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J. Biol. Chem. 2001, 276:39320-39329.
    • (2001) J. Biol. Chem. , vol.276 , pp. 39320-39329
    • Richards, N.1    Schaner, P.2    Diaz, A.3
  • 84
    • 0037349294 scopus 로고    scopus 로고
    • Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
    • Chae J.J., Komarow H.D., Cheng J., et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol. Cell 2003, 11:591-604.
    • (2003) Mol. Cell , vol.11 , pp. 591-604
    • Chae, J.J.1    Komarow, H.D.2    Cheng, J.3
  • 85
    • 0037436868 scopus 로고    scopus 로고
    • Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
    • Dowds T.A., Masumoto J., Chen F.F., et al. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem. Biophys. Res. Commun. 2003, 302:575-580.
    • (2003) Biochem. Biophys. Res. Commun. , vol.302 , pp. 575-580
    • Dowds, T.A.1    Masumoto, J.2    Chen, F.F.3
  • 86
    • 0037470744 scopus 로고    scopus 로고
    • ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis
    • Masumoto J., Dowds T.A., Schaner P., et al. ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis. Biochem. Biophys. Res. Commun. 2003, 303:69-73.
    • (2003) Biochem. Biophys. Res. Commun. , vol.303 , pp. 69-73
    • Masumoto, J.1    Dowds, T.A.2    Schaner, P.3
  • 87
    • 58249089097 scopus 로고    scopus 로고
    • Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid deposition
    • Balci-Peynircioglu B., Waite A.L., Schaner P., et al. Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid deposition. Exp. Biol. Med. (Maywood) 2008, 233:1324-1333.
    • (2008) Exp. Biol. Med. (Maywood) , vol.233 , pp. 1324-1333
    • Balci-Peynircioglu, B.1    Waite, A.L.2    Schaner, P.3
  • 88
    • 0036671894 scopus 로고    scopus 로고
    • The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
    • Martinon F., Burns K., Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol. Cell 2002, 10:417-426.
    • (2002) Mol. Cell , vol.10 , pp. 417-426
    • Martinon, F.1    Burns, K.2    Tschopp, J.3
  • 89
    • 0344585401 scopus 로고    scopus 로고
    • Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation
    • Stehlik C., Lee S.H., Dorfleutner A., et al. Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. J. Immunol. 2003, 171:6154-6163.
    • (2003) J. Immunol. , vol.171 , pp. 6154-6163
    • Stehlik, C.1    Lee, S.H.2    Dorfleutner, A.3
  • 90
    • 60549111042 scopus 로고    scopus 로고
    • Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin
    • Waite A.L., Schaner P., Hu C., et al. Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin. Exp. Biol. Med. (Maywood) 2009, 234:40-52.
    • (2009) Exp. Biol. Med. (Maywood) , vol.234 , pp. 40-52
    • Waite, A.L.1    Schaner, P.2    Hu, C.3
  • 91
    • 0037308317 scopus 로고    scopus 로고
    • Increased soluble FAS suggests delayed apoptosis in familial Mediterranean fever complicated with amyloidosis
    • Kiraz S., Ertenli I., Ozturk M.A., et al. Increased soluble FAS suggests delayed apoptosis in familial Mediterranean fever complicated with amyloidosis. J. Rheumatol. 2003, 30:313-315.
    • (2003) J. Rheumatol. , vol.30 , pp. 313-315
    • Kiraz, S.1    Ertenli, I.2    Ozturk, M.A.3
  • 92
    • 52649104806 scopus 로고    scopus 로고
    • The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment
    • Chae J.J., Wood G., Richard K., et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood 2008, 112:1794-1803.
    • (2008) Blood , vol.112 , pp. 1794-1803
    • Chae, J.J.1    Wood, G.2    Richard, K.3
  • 93
    • 0037121940 scopus 로고    scopus 로고
    • The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways
    • Stehlik C., Fiorentino L., Dorfleutner A., et al. The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways. J. Exp. Med. 2002, 196:1605-1615.
    • (2002) J. Exp. Med. , vol.196 , pp. 1605-1615
    • Stehlik, C.1    Fiorentino, L.2    Dorfleutner, A.3
  • 94
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • Chae J.J., Wood G., Masters S.L., et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:9982-9987.
    • (2006) Proc. Natl. Acad. Sci. U.S.A. , vol.103 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3
  • 95
    • 66449096202 scopus 로고    scopus 로고
    • Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
    • Booty M.G., Chae J.J., Masters S.L., et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit?. Arthritis Rheum. 2009, 60:1851-1861.
    • (2009) Arthritis Rheum. , vol.60 , pp. 1851-1861
    • Booty, M.G.1    Chae, J.J.2    Masters, S.L.3
  • 96
    • 46449134465 scopus 로고    scopus 로고
    • Anakinra: new therapeutic approach in children with familial Mediterranean fever resistant to colchicine
    • Roldan R., Ruiz A.M., Miranda M.D., et al. Anakinra: new therapeutic approach in children with familial Mediterranean fever resistant to colchicine. Joint Bone Spine 2008, 75:504-505.
    • (2008) Joint Bone Spine , vol.75 , pp. 504-505
    • Roldan, R.1    Ruiz, A.M.2    Miranda, M.D.3
  • 97
    • 0014118417 scopus 로고
    • Familial Mediterranean fever. A survey of 470 cases and review of the literature
    • Sohar E., Gafni J., Pras M., et al. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am. J. Med. 1967, 43:227-253.
    • (1967) Am. J. Med. , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3
  • 98
    • 0016201740 scopus 로고
    • Familial Mediterranean fever in Armenians. Analysis of 100 cases
    • Schwabe A.D., Peters R.S. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine (Baltimore) 1974, 53:453-462.
    • (1974) Medicine (Baltimore) , vol.53 , pp. 453-462
    • Schwabe, A.D.1    Peters, R.S.2
  • 99
    • 0032990556 scopus 로고    scopus 로고
    • Familial Mediterranean fever in children: the expanded clinical profile
    • Majeed H.A., Rawashdeh M., el-Shanti H., et al. Familial Mediterranean fever in children: the expanded clinical profile. Q. J. Med. 1999, 92:309-318.
    • (1999) Q. J. Med. , vol.92 , pp. 309-318
    • Majeed, H.A.1    Rawashdeh, M.2    el-Shanti, H.3
  • 101
    • 0022992832 scopus 로고
    • Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs-a study of 175 patients and review of the literature
    • Barakat M.H., Karnik A.M., Majeed H.W., et al. Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs-a study of 175 patients and review of the literature. Q. J. Med. 1986, 60:837-847.
    • (1986) Q. J. Med. , vol.60 , pp. 837-847
    • Barakat, M.H.1    Karnik, A.M.2    Majeed, H.W.3
  • 102
    • 41149140471 scopus 로고    scopus 로고
    • Autoinflammatory diseases: clinical and genetic advances
    • Farasat S., Aksentijevich I., Toro J.R. Autoinflammatory diseases: clinical and genetic advances. Arch. Dermatol. 2008, 144:392-402.
    • (2008) Arch. Dermatol. , vol.144 , pp. 392-402
    • Farasat, S.1    Aksentijevich, I.2    Toro, J.R.3
  • 103
    • 0023147275 scopus 로고
    • Recurrent pulmonary atelectasis as a manifestation of familial Mediterranean fever
    • Brauman A., Gilboa Y. Recurrent pulmonary atelectasis as a manifestation of familial Mediterranean fever. Arch. Intern. Med. 1987, 147:378-379.
    • (1987) Arch. Intern. Med. , vol.147 , pp. 378-379
    • Brauman, A.1    Gilboa, Y.2
  • 104
    • 0034976206 scopus 로고    scopus 로고
    • The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease
    • Brik R., Shinawi M., Kasinetz L., et al. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum. 2001, 44:1416-1419.
    • (2001) Arthritis Rheum. , vol.44 , pp. 1416-1419
    • Brik, R.1    Shinawi, M.2    Kasinetz, L.3
  • 105
    • 0036214124 scopus 로고    scopus 로고
    • Arthritis in children with familial Mediterranean fever
    • Ince E., Cakar N., Tekin M., et al. Arthritis in children with familial Mediterranean fever. Rheumatol. Int. 2002, 21:213-217.
    • (2002) Rheumatol. Int. , vol.21 , pp. 213-217
    • Ince, E.1    Cakar, N.2    Tekin, M.3
  • 106
    • 0017736705 scopus 로고
    • Protracted arthritis in familial Mediterranean fever
    • Sneh E., Pras M., Michaeli D., et al. Protracted arthritis in familial Mediterranean fever. Rheumatol. Rehabil. 1977, 16:102-106.
    • (1977) Rheumatol. Rehabil. , vol.16 , pp. 102-106
    • Sneh, E.1    Pras, M.2    Michaeli, D.3
  • 107
    • 0028101194 scopus 로고
    • Protracted febrile myalgia in patients with familial Mediterranean fever
    • Langevitz P., Zemer D., Livneh A., et al. Protracted febrile myalgia in patients with familial Mediterranean fever. J. Rheumatol. 1994, 21:1708-1709.
    • (1994) J. Rheumatol. , vol.21 , pp. 1708-1709
    • Langevitz, P.1    Zemer, D.2    Livneh, A.3
  • 108
    • 0033793040 scopus 로고    scopus 로고
    • The clinical patterns of myalgia in children with familial Mediterranean fever
    • Majeed H.A., Al-Qudah A.K., Qubain H., et al. The clinical patterns of myalgia in children with familial Mediterranean fever. Semin. Arthritis Rheum. 2000, 30:138-143.
    • (2000) Semin. Arthritis Rheum. , vol.30 , pp. 138-143
    • Majeed, H.A.1    Al-Qudah, A.K.2    Qubain, H.3
  • 109
    • 0017275925 scopus 로고
    • Cutaneous manifestations of familial Mediterranean fever
    • Azizi E., Fisher B.K. Cutaneous manifestations of familial Mediterranean fever. Arch. Dermatol. 1976, 112:364-366.
    • (1976) Arch. Dermatol. , vol.112 , pp. 364-366
    • Azizi, E.1    Fisher, B.K.2
  • 110
    • 0034068191 scopus 로고    scopus 로고
    • Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation
    • Barzilai A., Langevitz P., Goldberg I., et al. Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation. J. Am. Acad. Dermatol. 2000, 42:791-795.
    • (2000) J. Am. Acad. Dermatol. , vol.42 , pp. 791-795
    • Barzilai, A.1    Langevitz, P.2    Goldberg, I.3
  • 111
    • 0028232926 scopus 로고
    • Acute scrotal pain complicating familial Mediterranean fever in children
    • Eshel G., Vinograd I., Barr J., et al. Acute scrotal pain complicating familial Mediterranean fever in children. Br. J. Surg. 1994, 81:894-896.
    • (1994) Br. J. Surg. , vol.81 , pp. 894-896
    • Eshel, G.1    Vinograd, I.2    Barr, J.3
  • 112
    • 0343776129 scopus 로고    scopus 로고
    • The acute scrotum in Arab children with familial Mediterranean fever
    • Majeed H.A., Ghandour K., Shahin H.M. The acute scrotum in Arab children with familial Mediterranean fever. Pediatr. Surg. Int. 2000, 16:72-74.
    • (2000) Pediatr. Surg. Int. , vol.16 , pp. 72-74
    • Majeed, H.A.1    Ghandour, K.2    Shahin, H.M.3
  • 113
    • 0029681944 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Arab children: the high prevalence and gene frequency
    • Rawashdeh M.O., Majeed H.A. Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur. J. Pediatr. 1996, 155:540-544.
    • (1996) Eur. J. Pediatr. , vol.155 , pp. 540-544
    • Rawashdeh, M.O.1    Majeed, H.A.2
  • 114
    • 0344011080 scopus 로고    scopus 로고
    • Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura
    • 2003
    • Gershoni-Baruch R., Broza Y., Brik R. Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. J. Pediatr. 2003, 143:658-661. 2003.
    • (2003) J. Pediatr. , vol.143 , pp. 658-661
    • Gershoni-Baruch, R.1    Broza, Y.2    Brik, R.3
  • 115
    • 0030692845 scopus 로고    scopus 로고
    • Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF)
    • Kees S., Langevitz P., Zemer D., et al. Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF). Q. J. Med. 1997, 90:643-647.
    • (1997) Q. J. Med. , vol.90 , pp. 643-647
    • Kees, S.1    Langevitz, P.2    Zemer, D.3
  • 116
    • 0033625291 scopus 로고    scopus 로고
    • Behçet's disease in familial Mediterranean fever: characterization of the association between the two diseases
    • Schwartz T., Langevitz P., Zemer D., et al. Behçet's disease in familial Mediterranean fever: characterization of the association between the two diseases. Semin. Arthritis Rheum. 2000, 29:286-295.
    • (2000) Semin. Arthritis Rheum. , vol.29 , pp. 286-295
    • Schwartz, T.1    Langevitz, P.2    Zemer, D.3
  • 117
    • 0035076326 scopus 로고    scopus 로고
    • A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)
    • Livneh A., Aksentijevich I., Langevitz P., et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD). Eur. J. Hum. Genet. 2001, 9:191-196.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 191-196
    • Livneh, A.1    Aksentijevich, I.2    Langevitz, P.3
  • 118
    • 0036195579 scopus 로고    scopus 로고
    • Familial mediterranean fever and Behcet's disease: are they associated?
    • Ben-Chetrit E., Cohen R., Chajek-Shaul T. Familial mediterranean fever and Behcet's disease: are they associated?. J. Rheumatol. 2002, 29:530-534.
    • (2002) J. Rheumatol. , vol.29 , pp. 530-534
    • Ben-Chetrit, E.1    Cohen, R.2    Chajek-Shaul, T.3
  • 119
    • 0031058550 scopus 로고    scopus 로고
    • Vasculitis in familial Mediterranean fever
    • Ozdogan H., Arisoy N., Kasapcapur O., et al. Vasculitis in familial Mediterranean fever. J. Rheumatol. 1997, 24:323-327.
    • (1997) J. Rheumatol. , vol.24 , pp. 323-327
    • Ozdogan, H.1    Arisoy, N.2    Kasapcapur, O.3
  • 120
    • 0345130008 scopus 로고    scopus 로고
    • Familial Mediterranean fever: renal involvement by diseases other than amyloid
    • Tekin M., Yalcinkaya F., Tumer N., et al. Familial Mediterranean fever: renal involvement by diseases other than amyloid. Nephrol. Dial. Transplant 1999, 14:475-479.
    • (1999) Nephrol. Dial. Transplant , vol.14 , pp. 475-479
    • Tekin, M.1    Yalcinkaya, F.2    Tumer, N.3
  • 121
    • 0035111463 scopus 로고    scopus 로고
    • Polyarteritis nodosa in patients with familial Mediterranean fever (FMF): a concomitant disease or a feature of FMF?
    • Ozen S., Ben-Chetrit E., Bakkaloglu A., et al. Polyarteritis nodosa in patients with familial Mediterranean fever (FMF): a concomitant disease or a feature of FMF?. Semin. Arthritis Rheum. 2001, 30:281-287.
    • (2001) Semin. Arthritis Rheum. , vol.30 , pp. 281-287
    • Ozen, S.1    Ben-Chetrit, E.2    Bakkaloglu, A.3
  • 122
    • 0026501715 scopus 로고
    • Spectrum of renal involvement in familial Mediterranean fever
    • Said R., Hamzeh Y., Said S., et al. Spectrum of renal involvement in familial Mediterranean fever. Kidney Int. 1992, 41:414-419.
    • (1992) Kidney Int. , vol.41 , pp. 414-419
    • Said, R.1    Hamzeh, Y.2    Said, S.3
  • 123
    • 0842308716 scopus 로고    scopus 로고
    • Familial Mediterranean fever and glomerulonephritis and review of the literature
    • Akpolat T., Akpolat I., Karagoz F., et al. Familial Mediterranean fever and glomerulonephritis and review of the literature. Rheumatol. Int. 2004, 24:43-45.
    • (2004) Rheumatol. Int. , vol.24 , pp. 43-45
    • Akpolat, T.1    Akpolat, I.2    Karagoz, F.3
  • 124
    • 0034728080 scopus 로고    scopus 로고
    • Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever
    • Cattan D., Notarnicola C., Molinari N., et al. Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 2000, 355:378-379.
    • (2000) Lancet , vol.355 , pp. 378-379
    • Cattan, D.1    Notarnicola, C.2    Molinari, N.3
  • 125
    • 0036841733 scopus 로고    scopus 로고
    • Crohn disease in patients with familial Mediterranean fever
    • Fidder H.H., Chowers Y., Lidar M., et al. Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 2002, 81:411-416.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 411-416
    • Fidder, H.H.1    Chowers, Y.2    Lidar, M.3
  • 126
    • 0344609221 scopus 로고    scopus 로고
    • Acute phase response and evolution of familial Mediterranean fever
    • Tunca M., Kirkali G., Soyturk M., et al. Acute phase response and evolution of familial Mediterranean fever. Lancet 1999, 353:1415.
    • (1999) Lancet , vol.353 , pp. 1415
    • Tunca, M.1    Kirkali, G.2    Soyturk, M.3
  • 127
    • 0036145089 scopus 로고    scopus 로고
    • Acute phase response in familial Mediterranean fever
    • Korkmaz C., Ozdogan H., Kasapcopur O., et al. Acute phase response in familial Mediterranean fever. Ann. Rheum. Dis. 2002, 61:79-81.
    • (2002) Ann. Rheum. Dis. , vol.61 , pp. 79-81
    • Korkmaz, C.1    Ozdogan, H.2    Kasapcopur, O.3
  • 128
    • 0042699996 scopus 로고    scopus 로고
    • Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever
    • Duzova A., Bakkaloglu A., Besbas N., et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin. Exp. Rheumatol. 2003, 21:509-514.
    • (2003) Clin. Exp. Rheumatol. , vol.21 , pp. 509-514
    • Duzova, A.1    Bakkaloglu, A.2    Besbas, N.3
  • 129
    • 0033754004 scopus 로고    scopus 로고
    • Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
    • Cazeneuve C., Ajrapetyan H., Papin S., et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. 2000, 67:1136-1143.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1136-1143
    • Cazeneuve, C.1    Ajrapetyan, H.2    Papin, S.3
  • 130
    • 0037388591 scopus 로고    scopus 로고
    • The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
    • Gershoni-Baruch R., Brik R., Zacks N., et al. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003, 48:1149-1155.
    • (2003) Arthritis Rheum. , vol.48 , pp. 1149-1155
    • Gershoni-Baruch, R.1    Brik, R.2    Zacks, N.3
  • 131
    • 2642568385 scopus 로고    scopus 로고
    • Influence of serum smyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population
    • Bakkaloglu A., Duzova A., Ozen S., et al. Influence of serum smyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. J. Rheumatol. 2004, 31:1139-1142.
    • (2004) J. Rheumatol. , vol.31 , pp. 1139-1142
    • Bakkaloglu, A.1    Duzova, A.2    Ozen, S.3
  • 132
    • 0037309582 scopus 로고    scopus 로고
    • Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation
    • Gershoni-Baruch R., Brik R., Lidar M., et al. Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. J. Rheumatol. 2003, 30:308-312.
    • (2003) J. Rheumatol. , vol.30 , pp. 308-312
    • Gershoni-Baruch, R.1    Brik, R.2    Lidar, M.3
  • 133
    • 0033362158 scopus 로고    scopus 로고
    • MEFV-gene analysis in armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications
    • Cazeneuve C., Sarkisian T., Pecheux C., et al. MEFV-gene analysis in armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am. J. Hum. Genet. 1999, 65:88-97.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 88-97
    • Cazeneuve, C.1    Sarkisian, T.2    Pecheux, C.3
  • 134
    • 0033724484 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features
    • Kone Paut I., Dubuc M., Sportouch J., et al. Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology (Oxford) 2000, 39:1275-1279.
    • (2000) Rheumatology (Oxford) , vol.39 , pp. 1275-1279
    • Kone Paut, I.1    Dubuc, M.2    Sportouch, J.3
  • 135
    • 0033910042 scopus 로고    scopus 로고
    • Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
    • Shinar Y., Livneh A., Langevitz P., et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J. Rheumatol. 2000, 27:1703-1707.
    • (2000) J. Rheumatol. , vol.27 , pp. 1703-1707
    • Shinar, Y.1    Livneh, A.2    Langevitz, P.3
  • 136
    • 6744260791 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis
    • Yalcinkaya F., Cakar N., Misirlioglu M., et al. Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology (Oxford) 2000, 39:67-72.
    • (2000) Rheumatology (Oxford) , vol.39 , pp. 67-72
    • Yalcinkaya, F.1    Cakar, N.2    Misirlioglu, M.3
  • 137
    • 58849097636 scopus 로고    scopus 로고
    • Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease
    • Ozen S., Aktay N., Lainka E., et al. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann. Rheum. Dis. 2009, 68:246-248.
    • (2009) Ann. Rheum. Dis. , vol.68 , pp. 246-248
    • Ozen, S.1    Aktay, N.2    Lainka, E.3
  • 138
    • 34248571365 scopus 로고    scopus 로고
    • Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
    • Touitou I., Sarkisian T., Medlej-Hashim M., et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007, 56:1706-1712.
    • (2007) Arthritis Rheum. , vol.56 , pp. 1706-1712
    • Touitou, I.1    Sarkisian, T.2    Medlej-Hashim, M.3
  • 139
    • 0000195709 scopus 로고
    • The diagnosis of amyloidosis. Ancillary procedures
    • Blum A., Sohar E. The diagnosis of amyloidosis. Ancillary procedures. Lancet 1962, 1:721-724.
    • (1962) Lancet , vol.1 , pp. 721-724
    • Blum, A.1    Sohar, E.2
  • 140
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • Livneh A., Langevitz P., Zemer D., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997, 40:1879-1885.
    • (1997) Arthritis Rheum. , vol.40 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 141
    • 63249101990 scopus 로고    scopus 로고
    • A new set of criteria for the diagnosis of familial Mediterranean fever in childhood
    • Yalcinkaya F., Ozen S., Ozcakar Z.B., et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009, 48:395-398.
    • (2009) Rheumatology (Oxford) , vol.48 , pp. 395-398
    • Yalcinkaya, F.1    Ozen, S.2    Ozcakar, Z.B.3
  • 142
    • 4143125654 scopus 로고    scopus 로고
    • Infevers: an evolving mutation database for auto-inflammatory syndromes
    • Touitou I., Lesage S., McDermott M., et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum. Mutat. 2004, 24:194-198.
    • (2004) Hum. Mutat. , vol.24 , pp. 194-198
    • Touitou, I.1    Lesage, S.2    McDermott, M.3
  • 143
    • 0034033799 scopus 로고    scopus 로고
    • Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity
    • Domingo C., Touitou I., Bayou A., et al. Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity. Eur. J. Hum. Genet. 2000, 8:242-246.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 242-246
    • Domingo, C.1    Touitou, I.2    Bayou, A.3
  • 144
    • 0042072901 scopus 로고    scopus 로고
    • Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
    • Cazeneuve C., Hovannesyan Z., Genevieve D., et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum. 2003, 48:2324-2331.
    • (2003) Arthritis Rheum. , vol.48 , pp. 2324-2331
    • Cazeneuve, C.1    Hovannesyan, Z.2    Genevieve, D.3
  • 145
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal dominant familial Mediterranean fever
    • Booth D.R., Gillmore J.D., Lachmann H.J., et al. The genetic basis of autosomal dominant familial Mediterranean fever. Q. J. Med. 2000, 93:217-221.
    • (2000) Q. J. Med. , vol.93 , pp. 217-221
    • Booth, D.R.1    Gillmore, J.D.2    Lachmann, H.J.3
  • 146
    • 0035146714 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
    • Mansour I., Delague V., Cazeneuve C., et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur. J. Hum. Genet. 2001, 9:51-55.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 51-55
    • Mansour, I.1    Delague, V.2    Cazeneuve, C.3
  • 147
    • 0037228468 scopus 로고    scopus 로고
    • Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever
    • Padeh S., Shinar Y., Pras E., et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J. Rheumatol. 2003, 30:185-190.
    • (2003) J. Rheumatol. , vol.30 , pp. 185-190
    • Padeh, S.1    Shinar, Y.2    Pras, E.3
  • 148
    • 66449090908 scopus 로고    scopus 로고
    • Clinical disease among patients heterozygous for familial Mediterranean fever
    • Marek-Yagel D., Berkun Y., Padeh S., et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009, 60:1862-1866.
    • (2009) Arthritis Rheum. , vol.60 , pp. 1862-1866
    • Marek-Yagel, D.1    Berkun, Y.2    Padeh, S.3
  • 149
    • 0020320993 scopus 로고
    • Colchicine. New uses of an old, old drug
    • Malkinson F.D. Colchicine. New uses of an old, old drug. Arch. Dermatol. 1982, 118:453-457.
    • (1982) Arch. Dermatol. , vol.118 , pp. 453-457
    • Malkinson, F.D.1
  • 150
    • 0025296729 scopus 로고
    • Long-term colchicine prophylaxis in children with familial Mediterranean fever (recurrent hereditary polyserositis)
    • Majeed H.A., Carroll J.E., Khuffash F.A., et al. Long-term colchicine prophylaxis in children with familial Mediterranean fever (recurrent hereditary polyserositis). J. Pediatr. 1990, 116:997-999.
    • (1990) J. Pediatr. , vol.116 , pp. 997-999
    • Majeed, H.A.1    Carroll, J.E.2    Khuffash, F.A.3
  • 151
    • 33947186204 scopus 로고    scopus 로고
    • Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement
    • Kallinich T., Haffner D., Niehues T., et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 2007, 119:e474-e483.
    • (2007) Pediatrics , vol.119
    • Kallinich, T.1    Haffner, D.2    Niehues, T.3
  • 152
    • 0028096627 scopus 로고
    • Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome
    • Livneh A., Zemer D., Langevitz P., et al. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Arthritis Rheum. 1994, 37:1804-1811.
    • (1994) Arthritis Rheum. , vol.37 , pp. 1804-1811
    • Livneh, A.1    Zemer, D.2    Langevitz, P.3
  • 153
    • 0025866886 scopus 로고
    • Long-term colchicine treatment in children with familial Mediterranean fever
    • Zemer D., Livneh A., Danon Y.L., et al. Long-term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum. 1991, 34:973-977.
    • (1991) Arthritis Rheum. , vol.34 , pp. 973-977
    • Zemer, D.1    Livneh, A.2    Danon, Y.L.3
  • 154
    • 0344897689 scopus 로고    scopus 로고
    • Colchicine treatment in children with familial Mediterranean fever
    • Ozkaya N., Yalcinkaya F. Colchicine treatment in children with familial Mediterranean fever. Clin. Rheumatol. 2003, 22:314-317.
    • (2003) Clin. Rheumatol. , vol.22 , pp. 314-317
    • Ozkaya, N.1    Yalcinkaya, F.2
  • 156
    • 0036709325 scopus 로고    scopus 로고
    • Colchicine-induced acute myopathy in a patient with concomitant use of simvastatin
    • Hsu W.C., Chen W.H., Chang M.T., et al. Colchicine-induced acute myopathy in a patient with concomitant use of simvastatin. Clin. Neuropharmacol. 2002, 25:266-268.
    • (2002) Clin. Neuropharmacol. , vol.25 , pp. 266-268
    • Hsu, W.C.1    Chen, W.H.2    Chang, M.T.3
  • 157
    • 0018580930 scopus 로고
    • Renal transplantation in the amyloidosis of familial Mediterranean fever. Experience in ten cases
    • Jacob E.T., Bar-Nathan N., Shapira Z., et al. Renal transplantation in the amyloidosis of familial Mediterranean fever. Experience in ten cases. Arch. Intern. Med. 1979, 139:1135-1138.
    • (1979) Arch. Intern. Med. , vol.139 , pp. 1135-1138
    • Jacob, E.T.1    Bar-Nathan, N.2    Shapira, Z.3
  • 158
    • 0025142149 scopus 로고
    • End-stage renal disease in systemic amyloidosis: clinical course and outcome on dialysis
    • Martinez-Vea A., Garcia C., Carreras M., et al. End-stage renal disease in systemic amyloidosis: clinical course and outcome on dialysis. Am. J. Nephrol. 1990, 10:283-289.
    • (1990) Am. J. Nephrol. , vol.10 , pp. 283-289
    • Martinez-Vea, A.1    Garcia, C.2    Carreras, M.3
  • 159
    • 0035679035 scopus 로고    scopus 로고
    • Renal transplantation in amyloidosis secondary to familial Mediterranean fever
    • Sever M.S., Turkmen A., Sahin S., et al. Renal transplantation in amyloidosis secondary to familial Mediterranean fever. Transplant. Proc. 2001, 33:3392-3393.
    • (2001) Transplant. Proc. , vol.33 , pp. 3392-3393
    • Sever, M.S.1    Turkmen, A.2    Sahin, S.3
  • 160
    • 0042126926 scopus 로고    scopus 로고
    • Long-term outcome of live donor kidney transplantation for renal amyloidosis
    • Sherif A.M., Refaie A.F., Sobh M.A., et al. Long-term outcome of live donor kidney transplantation for renal amyloidosis. Am. J. Kidney Dis. 2003, 42:370-375.
    • (2003) Am. J. Kidney Dis. , vol.42 , pp. 370-375
    • Sherif, A.M.1    Refaie, A.F.2    Sobh, M.A.3
  • 162
    • 0033919244 scopus 로고    scopus 로고
    • A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family
    • Dode C., Papo T., Fieschi C., et al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. Arthritis Rheum. 2000, 43:1535-1542.
    • (2000) Arthritis Rheum. , vol.43 , pp. 1535-1542
    • Dode, C.1    Papo, T.2    Fieschi, C.3
  • 163
    • 0035144572 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
    • Aganna E., Aksentijevich I., Hitman G., et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. Eur. J. Hum. Genet. 2001, 9:63-66.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 63-66
    • Aganna, E.1    Aksentijevich, I.2    Hitman, G.3
  • 164
    • 0034926933 scopus 로고    scopus 로고
    • The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    • Aksentijevich I., Galon J., Soares M., et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am. J. Hum. Genet. 2001, 69:301-314.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3
  • 165
    • 0035046357 scopus 로고    scopus 로고
    • Autosomal-dominant periodic fever with AA amyloidosis: novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication
    • Jadoul M., Dode C., Cosyns J.P., et al. Autosomal-dominant periodic fever with AA amyloidosis: novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication. Kidney Int. 2001, 59:1677-1682.
    • (2001) Kidney Int. , vol.59 , pp. 1677-1682
    • Jadoul, M.1    Dode, C.2    Cosyns, J.P.3
  • 166
    • 0035126509 scopus 로고    scopus 로고
    • Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene
    • Simon A., Dode C., van der Meer J.W., et al. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene. Am. J. Med. 2001, 110:313-316.
    • (2001) Am. J. Med. , vol.110 , pp. 313-316
    • Simon, A.1    Dode, C.2    van der Meer, J.W.3
  • 167
    • 0035851284 scopus 로고    scopus 로고
    • Genetic analysis as a valuable key to diagnosis and treatment of periodic fever
    • Simon A., van Deuren M., Tighe P.J., et al. Genetic analysis as a valuable key to diagnosis and treatment of periodic fever. Arch. Intern. Med. 2001, 161:2491-2493.
    • (2001) Arch. Intern. Med. , vol.161 , pp. 2491-2493
    • Simon, A.1    van Deuren, M.2    Tighe, P.J.3
  • 168
    • 0036161835 scopus 로고    scopus 로고
    • An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome
    • Aganna E., Zeharia A., Hitman G.A., et al. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2002, 46:245-249.
    • (2002) Arthritis Rheum. , vol.46 , pp. 245-249
    • Aganna, E.1    Zeharia, A.2    Hitman, G.A.3
  • 169
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • Dode C., Andre M., Bienvenu T., et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2002, 46:2181-2188.
    • (2002) Arthritis Rheum. , vol.46 , pp. 2181-2188
    • Dode, C.1    Andre, M.2    Bienvenu, T.3
  • 170
    • 0036225529 scopus 로고    scopus 로고
    • A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever
    • Nevala H., Karenko L., Stjernberg S., et al. A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum. 2002, 46:1061-1066.
    • (2002) Arthritis Rheum. , vol.46 , pp. 1061-1066
    • Nevala, H.1    Karenko, L.2    Stjernberg, S.3
  • 171
    • 0141564873 scopus 로고    scopus 로고
    • Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
    • Aganna E., Hammond L., Hawkins P.N., et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003, 48:2632-2644.
    • (2003) Arthritis Rheum. , vol.48 , pp. 2632-2644
    • Aganna, E.1    Hammond, L.2    Hawkins, P.N.3
  • 172
    • 0042573869 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis
    • Kriegel M.A., Huffmeier U., Scherb E., et al. Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum. 2003, 48:2386-2388.
    • (2003) Arthritis Rheum. , vol.48 , pp. 2386-2388
    • Kriegel, M.A.1    Huffmeier, U.2    Scherb, E.3
  • 173
    • 0742321759 scopus 로고    scopus 로고
    • Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family
    • Kusuhara K., Nomura A., Nakao F., et al. Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur. J. Pediatr. 2004, 163:30-32.
    • (2004) Eur. J. Pediatr. , vol.163 , pp. 30-32
    • Kusuhara, K.1    Nomura, A.2    Nakao, F.3
  • 174
    • 33747780470 scopus 로고    scopus 로고
    • Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    • Ravet N., Rouaghe S., Dode C., et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann. Rheum. Dis. 2006, 65:1158-1162.
    • (2006) Ann. Rheum. Dis. , vol.65 , pp. 1158-1162
    • Ravet, N.1    Rouaghe, S.2    Dode, C.3
  • 175
    • 13444267397 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child
    • Saulsbury F.T., Wispelwey B. Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child. J. Pediatr. 2005, 146:283-285.
    • (2005) J. Pediatr. , vol.146 , pp. 283-285
    • Saulsbury, F.T.1    Wispelwey, B.2
  • 176
    • 0037323831 scopus 로고    scopus 로고
    • A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
    • Weyhreter H., Schwartz M., Kristensen T.D., et al. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. J. Pediatr. 2003, 142:191-193.
    • (2003) J. Pediatr. , vol.142 , pp. 191-193
    • Weyhreter, H.1    Schwartz, M.2    Kristensen, T.D.3
  • 177
    • 54349104056 scopus 로고    scopus 로고
    • A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS)
    • Churchman S.M., Church L.D., Savic S., et al. A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann. Rheum. Dis. 2008, 67:1589-1595.
    • (2008) Ann. Rheum. Dis. , vol.67 , pp. 1589-1595
    • Churchman, S.M.1    Church, L.D.2    Savic, S.3
  • 178
    • 50249188364 scopus 로고    scopus 로고
    • Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment
    • Stojanov S., Dejaco C., Lohse P., et al. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Ann. Rheum. Dis. 2008, 67:1292-1298.
    • (2008) Ann. Rheum. Dis. , vol.67 , pp. 1292-1298
    • Stojanov, S.1    Dejaco, C.2    Lohse, P.3
  • 179
    • 4043090739 scopus 로고    scopus 로고
    • Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types
    • Huggins M.L., Radford P.M., McIntosh R.S., et al. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. Arthritis Rheum. 2004, 50:2651-2659.
    • (2004) Arthritis Rheum. , vol.50 , pp. 2651-2659
    • Huggins, M.L.1    Radford, P.M.2    McIntosh, R.S.3
  • 180
    • 17244382043 scopus 로고    scopus 로고
    • Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant
    • Siebert S., Amos N., Fielding C.A., et al. Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. Arthritis Rheum. 2005, 52:1287-1292.
    • (2005) Arthritis Rheum. , vol.52 , pp. 1287-1292
    • Siebert, S.1    Amos, N.2    Fielding, C.A.3
  • 181
    • 38149024911 scopus 로고    scopus 로고
    • Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome
    • Nedjai B., Hitman G.A., Yousaf N., et al. Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor
    • (2008) Arthritis Rheum. , vol.58 , pp. 273-283
    • Nedjai, B.1    Hitman, G.A.2    Yousaf, N.3
  • 182
    • 32844473310 scopus 로고    scopus 로고
    • The tumour necrosis factor receptor-associated periodic syndrome: current concepts
    • Stojanov S., McDermott M.F. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev. Mol. Med. 2005, 7:1-18.
    • (2005) Expert Rev. Mol. Med. , vol.7 , pp. 1-18
    • Stojanov, S.1    McDermott, M.F.2
  • 183
    • 24944465008 scopus 로고    scopus 로고
    • Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB activation due to decreased surface expression
    • Siebert S., Fielding C.A., Williams B.D. Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB activation due to decreased surface expression. FEBS Lett. 2005, 579:5193-5198.
    • (2005) FEBS Lett. , vol.579 , pp. 5193-5198
    • Siebert, S.1    Fielding, C.A.2    Williams, B.D.3
  • 184
    • 33747162175 scopus 로고    scopus 로고
    • Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)
    • Lobito A.A., Kimberley F.C., Muppidi J.R., et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 2006, 108:1320-1327.
    • (2006) Blood , vol.108 , pp. 1320-1327
    • Lobito, A.A.1    Kimberley, F.C.2    Muppidi, J.R.3
  • 185
    • 38849160958 scopus 로고    scopus 로고
    • Falling into TRAPS: receptor misfolding in the TNF receptor 1-associated periodic fever syndrome
    • Kimberley F.C., Lobito A.A., Siegel R.M., et al. Falling into TRAPS: receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res. Ther. 2007, 9:217.
    • (2007) Arthritis Res. Ther. , vol.9 , pp. 217
    • Kimberley, F.C.1    Lobito, A.A.2    Siegel, R.M.3
  • 186
    • 33746971927 scopus 로고    scopus 로고
    • Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function
    • Rebelo S.L., Bainbridge S.E., Amel-Kashipaz M.R., et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum. 2006, 54:2674-2687.
    • (2006) Arthritis Rheum. , vol.54 , pp. 2674-2687
    • Rebelo, S.L.1    Bainbridge, S.E.2    Amel-Kashipaz, M.R.3
  • 187
    • 4444320270 scopus 로고    scopus 로고
    • Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour
    • Todd I., Radford P.M., Draper-Morgan K.A., et al. Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour. Immunology 2004, 113:65-79.
    • (2004) Immunology , vol.113 , pp. 65-79
    • Todd, I.1    Radford, P.M.2    Draper-Morgan, K.A.3
  • 188
    • 25444485148 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation
    • Yousaf N., Gould D.J., Aganna E., et al. Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation. Arthritis Rheum. 2005, 52:2906-2916.
    • (2005) Arthritis Rheum. , vol.52 , pp. 2906-2916
    • Yousaf, N.1    Gould, D.J.2    Aganna, E.3
  • 189
    • 33644878847 scopus 로고    scopus 로고
    • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications
    • D'Osualdo A., Ferlito F., Prigione I., et al. Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum. 2006, 54:998-1008.
    • (2006) Arthritis Rheum. , vol.54 , pp. 998-1008
    • D'Osualdo, A.1    Ferlito, F.2    Prigione, I.3
  • 190
    • 58249112158 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases
    • Ryan J.G., Aksentijevich I. Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. Arthritis Rheum. 2009, 60:8-11.
    • (2009) Arthritis Rheum. , vol.60 , pp. 8-11
    • Ryan, J.G.1    Aksentijevich, I.2
  • 191
    • 0034535910 scopus 로고    scopus 로고
    • Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
    • Toro J.R., Aksentijevich I., Hull K., et al. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch. Dermatol. 2000, 136:1487-1494.
    • (2000) Arch. Dermatol. , vol.136 , pp. 1487-1494
    • Toro, J.R.1    Aksentijevich, I.2    Hull, K.3
  • 192
    • 0036733312 scopus 로고    scopus 로고
    • The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    • Hull K.M., Drewe E., Aksentijevich I., et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002, 81:349-368.
    • (2002) Medicine (Baltimore) , vol.81 , pp. 349-368
    • Hull, K.M.1    Drewe, E.2    Aksentijevich, I.3
  • 194
    • 0036676098 scopus 로고    scopus 로고
    • Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction
    • Hull K.M., Wong K., Wood G.M., et al. Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction. Arthritis Rheum. 2002, 46:2189-2194.
    • (2002) Arthritis Rheum. , vol.46 , pp. 2189-2194
    • Hull, K.M.1    Wong, K.2    Wood, G.M.3
  • 195
    • 0036020916 scopus 로고    scopus 로고
    • Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
    • Dode C., Hazenberg B.P., Pecheux C., et al. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol. Dial. Transplant. 2002, 17:1212-1217.
    • (2002) Nephrol. Dial. Transplant. , vol.17 , pp. 1212-1217
    • Dode, C.1    Hazenberg, B.P.2    Pecheux, C.3
  • 196
    • 0034921664 scopus 로고    scopus 로고
    • Treatment of TRAPS with etanercept: use in pediatrics
    • Nigrovic P.A., Sundel R.P. Treatment of TRAPS with etanercept: use in pediatrics. Clin. Exp. Rheumatol. 2001, 19:484-485.
    • (2001) Clin. Exp. Rheumatol. , vol.19 , pp. 484-485
    • Nigrovic, P.A.1    Sundel, R.P.2
  • 197
    • 10044298526 scopus 로고    scopus 로고
    • Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis
    • Kallinich T., Briese S., Roesler J., et al. Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis. J. Rheumatol. 2004, 31:2519-2522.
    • (2004) J. Rheumatol. , vol.31 , pp. 2519-2522
    • Kallinich, T.1    Briese, S.2    Roesler, J.3
  • 198
    • 36448947978 scopus 로고    scopus 로고
    • Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS)
    • Drewe E., Powell R.J., McDermott E.M. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford) 2007, 46:1865-1866.
    • (2007) Rheumatology (Oxford) , vol.46 , pp. 1865-1866
    • Drewe, E.1    Powell, R.J.2    McDermott, E.M.3
  • 199
    • 0037295409 scopus 로고    scopus 로고
    • Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients
    • Drewe E., McDermott E.M., Powell P.T., et al. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 2003, 42:235-239.
    • (2003) Rheumatology (Oxford) , vol.42 , pp. 235-239
    • Drewe, E.1    McDermott, E.M.2    Powell, P.T.3
  • 200
    • 38649129408 scopus 로고    scopus 로고
    • Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS)
    • Siebert S., Amos N., Lawson T.M. Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford) 2008, 47:228-229.
    • (2008) Rheumatology (Oxford) , vol.47 , pp. 228-229
    • Siebert, S.1    Amos, N.2    Lawson, T.M.3
  • 201
    • 34447308222 scopus 로고    scopus 로고
    • Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS)
    • Jacobelli S., Andre M., Alexandra J.F., et al. Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford) 2007, 46:1211-1212.
    • (2007) Rheumatology (Oxford) , vol.46 , pp. 1211-1212
    • Jacobelli, S.1    Andre, M.2    Alexandra, J.F.3
  • 202
    • 59649101629 scopus 로고    scopus 로고
    • Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome
    • Nedjai B., Hitman G.A., Quillinan N., et al. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2009, 60:619-625.
    • (2009) Arthritis Rheum. , vol.60 , pp. 619-625
    • Nedjai, B.1    Hitman, G.A.2    Quillinan, N.3
  • 203
    • 43949128071 scopus 로고    scopus 로고
    • Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
    • Gattorno M., Pelagatti M.A., Meini A., et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008, 58:1516-1520.
    • (2008) Arthritis Rheum. , vol.58 , pp. 1516-1520
    • Gattorno, M.1    Pelagatti, M.A.2    Meini, A.3
  • 204
    • 58249112751 scopus 로고    scopus 로고
    • Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?
    • Picco P., Brisca G., Traverso F., et al. Successful treatment of idiopathic recurrent pericarditis in children with interleukin-1beta receptor antagonist (anakinra): an unrecognized autoinflammatory disease?. Arthritis Rheum. 2009, 60:264-268.
    • (2009) Arthritis Rheum. , vol.60 , pp. 264-268
    • Picco, P.1    Brisca, G.2    Traverso, F.3
  • 205
    • 39549122472 scopus 로고    scopus 로고
    • Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy
    • Sacre K., Brihaye B., Lidove O., et al. Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J. Rheumatol. 2008, 35:357-358.
    • (2008) J. Rheumatol. , vol.35 , pp. 357-358
    • Sacre, K.1    Brihaye, B.2    Lidove, O.3
  • 206
    • 0028148178 scopus 로고
    • Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group
    • Drenth J.P., Mariman E.C., Van der Velde-Visser S.D., et al. Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group. Hum. Genet. 1994, 94:616-620.
    • (1994) Hum. Genet. , vol.94 , pp. 616-620
    • Drenth, J.P.1    Mariman, E.C.2    Van der Velde-Visser, S.D.3
  • 207
    • 0021287627 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever: a new syndrome
    • van der Meer J.W., Vossen J.M., Radl J., et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984, 1:1087-1090.
    • (1984) Lancet , vol.1 , pp. 1087-1090
    • van der Meer, J.W.1    Vossen, J.M.2    Radl, J.3
  • 208
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth J.P., Cuisset L., Grateau G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat. Genet. 1999, 22:178-181.
    • (1999) Nat. Genet. , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3
  • 209
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten S.M., Kuis W., Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat. Genet. 1999, 22:175-177.
    • (1999) Nat. Genet. , vol.22 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3
  • 210
    • 0032993429 scopus 로고    scopus 로고
    • You give me fever
    • Valle D. You give me fever. Nat. Genet. 1999, 22:121-122.
    • (1999) Nat. Genet. , vol.22 , pp. 121-122
    • Valle, D.1
  • 211
    • 58149195381 scopus 로고    scopus 로고
    • Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome
    • van der Hilst J.C., Bodar E.J., Barron K.S., et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008, 87:301-310.
    • (2008) Medicine (Baltimore) , vol.87 , pp. 301-310
    • van der Hilst, J.C.1    Bodar, E.J.2    Barron, K.S.3
  • 212
    • 0025765345 scopus 로고
    • Hyperimmunoglobulinaemia D and periodic fever mimicking familial Mediterranean fever in the Mediterranean
    • Topaloglu R., Saatci U. Hyperimmunoglobulinaemia D and periodic fever mimicking familial Mediterranean fever in the Mediterranean. Postgrad. Med. J. 1991, 67:490-491.
    • (1991) Postgrad. Med. J. , vol.67 , pp. 490-491
    • Topaloglu, R.1    Saatci, U.2
  • 213
    • 0027315819 scopus 로고
    • Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum
    • Miyagawa S., Kitamura W., Morita K., et al. Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum. Br. J. Dermatol. 1993, 128:572-574.
    • (1993) Br. J. Dermatol. , vol.128 , pp. 572-574
    • Miyagawa, S.1    Kitamura, W.2    Morita, K.3
  • 214
    • 9044237679 scopus 로고    scopus 로고
    • Children with hyperimmunoglobulinemia D and periodic fever syndrome
    • Grose C., Schnetzer J.R., Ferrante A., et al. Children with hyperimmunoglobulinemia D and periodic fever syndrome. Pediatr. Infect. Dis. J. 1996, 15:72-77.
    • (1996) Pediatr. Infect. Dis. J. , vol.15 , pp. 72-77
    • Grose, C.1    Schnetzer, J.R.2    Ferrante, A.3
  • 215
    • 0037313632 scopus 로고    scopus 로고
    • A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome
    • Simon A., Mariman E.C., van der Meer J.W., et al. A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. Am. J. Med. 2003, 114:148-152.
    • (2003) Am. J. Med. , vol.114 , pp. 148-152
    • Simon, A.1    Mariman, E.C.2    van der Meer, J.W.3
  • 216
    • 0033861821 scopus 로고    scopus 로고
    • Mevalonate kinase deficiency and Dutch type periodic fever
    • Frenkel J., Houten S.M., Waterham H.R., et al. Mevalonate kinase deficiency and Dutch type periodic fever. Clin. Exp. Rheumatol. 2000, 18:525-532.
    • (2000) Clin. Exp. Rheumatol. , vol.18 , pp. 525-532
    • Frenkel, J.1    Houten, S.M.2    Waterham, H.R.3
  • 217
    • 0025120211 scopus 로고
    • Regulation of the mevalonate pathway
    • Goldstein J.L., Brown M.S. Regulation of the mevalonate pathway. Nature 1990, 343:425-430.
    • (1990) Nature , vol.343 , pp. 425-430
    • Goldstein, J.L.1    Brown, M.S.2
  • 218
    • 0027529504 scopus 로고
    • Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
    • Hoffmann G.F., Charpentier C., Mayatepek E., et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993, 91:915-921.
    • (1993) Pediatrics , vol.91 , pp. 915-921
    • Hoffmann, G.F.1    Charpentier, C.2    Mayatepek, E.3
  • 219
    • 0036822810 scopus 로고    scopus 로고
    • Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome
    • Frenkel J., Rijkers G.T., Mandey S.H., et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2002, 46:2794-2803.
    • (2002) Arthritis Rheum. , vol.46 , pp. 2794-2803
    • Frenkel, J.1    Rijkers, G.T.2    Mandey, S.H.3
  • 220
    • 55749113358 scopus 로고    scopus 로고
    • HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation
    • Kuijk L.M., Beekman J.M., Koster J., et al. HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 2008, 112:3563-3573.
    • (2008) Blood , vol.112 , pp. 3563-3573
    • Kuijk, L.M.1    Beekman, J.M.2    Koster, J.3
  • 221
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group
    • Drenth J.P., Haagsma C.J., van der Meer J.W. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994, 73:133-144.
    • (1994) Medicine (Baltimore) , vol.73 , pp. 133-144
    • Drenth, J.P.1    Haagsma, C.J.2    van der Meer, J.W.3
  • 222
    • 1842869873 scopus 로고    scopus 로고
    • Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
    • Houten S.M., Frenkel J., Rijkers G.T., et al. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum. Mol. Genet. 2002, 11:3115-3124.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 3115-3124
    • Houten, S.M.1    Frenkel, J.2    Rijkers, G.T.3
  • 223
    • 0027438152 scopus 로고
    • Occurrence of arthritis in hyperimmunoglobulinaemia D
    • Drenth J.P., Prieur A.M. Occurrence of arthritis in hyperimmunoglobulinaemia D. Ann. Rheum. Dis. 1993, 52:765-766.
    • (1993) Ann. Rheum. Dis. , vol.52 , pp. 765-766
    • Drenth, J.P.1    Prieur, A.M.2
  • 225
    • 0028044763 scopus 로고
    • Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group
    • Drenth J.P., Boom B.W., Toonstra J., et al. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch. Dermatol. 1994, 130:59-65.
    • (1994) Arch. Dermatol. , vol.130 , pp. 59-65
    • Drenth, J.P.1    Boom, B.W.2    Toonstra, J.3
  • 226
    • 16344374866 scopus 로고    scopus 로고
    • Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome
    • Wickiser J.E., Saulsbury F.T. Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome. Pediatr. Dermatol. 2005, 22:138-141.
    • (2005) Pediatr. Dermatol. , vol.22 , pp. 138-141
    • Wickiser, J.E.1    Saulsbury, F.T.2
  • 227
    • 0042243530 scopus 로고    scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration
    • Saulsbury F.T. Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. J. Pediatr. 2003, 143:127-129.
    • (2003) J. Pediatr. , vol.143 , pp. 127-129
    • Saulsbury, F.T.1
  • 229
    • 0029009413 scopus 로고
    • Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • Drenth J.P., van Deuren M., van der Ven-Jongekrijg J., et al. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 1995, 85:3586-3593.
    • (1995) Blood , vol.85 , pp. 3586-3593
    • Drenth, J.P.1    van Deuren, M.2    van der Ven-Jongekrijg, J.3
  • 230
    • 0034987162 scopus 로고    scopus 로고
    • Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
    • Frenkel J., Houten S.M., Waterham H.R., et al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford) 2001, 40:579-584.
    • (2001) Rheumatology (Oxford) , vol.40 , pp. 579-584
    • Frenkel, J.1    Houten, S.M.2    Waterham, H.R.3
  • 231
    • 0037007680 scopus 로고    scopus 로고
    • Hereditary periodic fever
    • author reply-6)
    • Kelley R.I., Takada I. Hereditary periodic fever. N. Engl. J. Med. 2002, 346:1415-1416. author reply-6).
    • (2002) N. Engl. J. Med. , vol.346 , pp. 1415-1416
    • Kelley, R.I.1    Takada, I.2
  • 232
    • 0024331824 scopus 로고
    • Clinical and immunological studies in patients with an increased serum IgD level
    • Hiemstra I., Vossen J.M., van der Meer J.W., et al. Clinical and immunological studies in patients with an increased serum IgD level. J. Clin. Immunol. 1989, 9:393-400.
    • (1989) J. Clin. Immunol. , vol.9 , pp. 393-400
    • Hiemstra, I.1    Vossen, J.M.2    van der Meer, J.W.3
  • 233
    • 0025644361 scopus 로고
    • IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever
    • Boom B.W., Daha M.R., Vermeer B.J., et al. IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever. Arch. Dermatol. 1990, 126:1621-1624.
    • (1990) Arch. Dermatol. , vol.126 , pp. 1621-1624
    • Boom, B.W.1    Daha, M.R.2    Vermeer, B.J.3
  • 234
    • 0035666961 scopus 로고    scopus 로고
    • Familial Mediterranean fever: association of elevated IgD plasma levels with specific MEFV mutations
    • Medlej-Hashim M., Petit I., Adib S., et al. Familial Mediterranean fever: association of elevated IgD plasma levels with specific MEFV mutations. Eur. J. Hum. Genet. 2001, 9:849-854.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 849-854
    • Medlej-Hashim, M.1    Petit, I.2    Adib, S.3
  • 235
    • 0037300287 scopus 로고    scopus 로고
    • Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
    • Houten S.M., van Woerden C.S., Wijburg F.A., et al. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur. J. Hum. Genet. 2003, 11:196-200.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 196-200
    • Houten, S.M.1    van Woerden, C.S.2    Wijburg, F.A.3
  • 236
    • 0035055571 scopus 로고    scopus 로고
    • Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
    • Cuisset L., Drenth J.P., Simon A., et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur. J. Hum. Genet. 2001, 9:260-266.
    • (2001) Eur. J. Hum. Genet. , vol.9 , pp. 260-266
    • Cuisset, L.1    Drenth, J.P.2    Simon, A.3
  • 237
    • 0141453408 scopus 로고    scopus 로고
    • Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    • Takada K., Aksentijevich I., Mahadevan V., et al. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003, 48:2645-2651.
    • (2003) Arthritis Rheum. , vol.48 , pp. 2645-2651
    • Takada, K.1    Aksentijevich, I.2    Mahadevan, V.3
  • 238
    • 2042501706 scopus 로고    scopus 로고
    • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • Simon A., Drewe E., van der Meer J.W., et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin. Pharmacol. Ther. 2004, 75:476-483.
    • (2004) Clin. Pharmacol. Ther. , vol.75 , pp. 476-483
    • Simon, A.1    Drewe, E.2    van der Meer, J.W.3
  • 239
    • 4444231190 scopus 로고    scopus 로고
    • First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome
    • Obici L., Manno C., Muda A.O., et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2004, 50:2966-2969.
    • (2004) Arthritis Rheum. , vol.50 , pp. 2966-2969
    • Obici, L.1    Manno, C.2    Muda, A.O.3
  • 240
    • 33745052318 scopus 로고    scopus 로고
    • AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases
    • Lachmann H.J., Goodman H.J., Andrews P.A., et al. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum. 2006, 54:2010-2014.
    • (2006) Arthritis Rheum. , vol.54 , pp. 2010-2014
    • Lachmann, H.J.1    Goodman, H.J.2    Andrews, P.A.3
  • 241
    • 33747617787 scopus 로고    scopus 로고
    • Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease?
    • Siewert R., Ferber J., Horstmann R.D., et al. Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease?. Am. J. Kidney Dis. 2006, 48:e41-e45.
    • (2006) Am. J. Kidney Dis. , vol.48
    • Siewert, R.1    Ferber, J.2    Horstmann, R.D.3
  • 244
    • 49449094892 scopus 로고    scopus 로고
    • A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome
    • Goldbach-Mansky R., Shroff S.D., Wilson M., et al. A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. Arthritis Rheum. 2008, 58:2432-2442.
    • (2008) Arthritis Rheum. , vol.58 , pp. 2432-2442
    • Goldbach-Mansky, R.1    Shroff, S.D.2    Wilson, M.3
  • 245
    • 0023894493 scopus 로고
    • A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients
    • Prieur A.M., Griscelli C., Lampert F., et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand. J. Rheumatol. (Suppl. 1987, 66):57-68.
    • (1987) Scand. J. Rheumatol. (Suppl. , pp. 57-68
    • Prieur, A.M.1    Griscelli, C.2    Lampert, F.3
  • 246
    • 0034774916 scopus 로고    scopus 로고
    • Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever
    • Hoffman H.M., Wanderer A.A., Broide D.H. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J. Allergy Clin. Immunol. 2001, 108:615-620.
    • (2001) J. Allergy Clin. Immunol. , vol.108 , pp. 615-620
    • Hoffman, H.M.1    Wanderer, A.A.2    Broide, D.H.3
  • 247
    • 0014557054 scopus 로고
    • Familial cold urticaria: a generalized reaction involving leukocytosis
    • Tindall J.P., Beeker S.K., Rosse W.F. Familial cold urticaria: a generalized reaction involving leukocytosis. Arch. Intern. Med. 1969, 124:129-134.
    • (1969) Arch. Intern. Med. , vol.124 , pp. 129-134
    • Tindall, J.P.1    Beeker, S.K.2    Rosse, W.F.3
  • 248
    • 0031868122 scopus 로고    scopus 로고
    • Muckle-Wells syndrome: case report and review of cutaneous pathology
    • Lieberman A., Grossman M.E., Silvers D.N. Muckle-Wells syndrome: case report and review of cutaneous pathology. J. Am. Acad. Dermatol. 1998, 39:290-291.
    • (1998) J. Am. Acad. Dermatol. , vol.39 , pp. 290-291
    • Lieberman, A.1    Grossman, M.E.2    Silvers, D.N.3
  • 250
    • 0001380014 scopus 로고
    • A case of cold urticaria with unusual family history
    • Kyle R.I.R.H. A case of cold urticaria with unusual family history. JAMA 1940, 114:1067.
    • (1940) JAMA , vol.114 , pp. 1067
    • Kyle, R.I.R.H.1
  • 251
    • 0036745064 scopus 로고    scopus 로고
    • Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
    • Aganna E., Martinon F., Hawkins P.N., et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002, 46:2445-2452.
    • (2002) Arthritis Rheum. , vol.46 , pp. 2445-2452
    • Aganna, E.1    Martinon, F.2    Hawkins, P.N.3
  • 253
    • 0035179970 scopus 로고    scopus 로고
    • Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
    • Hoffman H.M., Mueller J.L., Broide D.H., et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat. Genet. 2001, 29:301-305.
    • (2001) Nat. Genet. , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3
  • 254
    • 0037216780 scopus 로고    scopus 로고
    • The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    • Hull K.M., Shoham N., Chae J.J., et al. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr. Opin. Rheumatol. 2003, 15:61-69.
    • (2003) Curr. Opin. Rheumatol. , vol.15 , pp. 61-69
    • Hull, K.M.1    Shoham, N.2    Chae, J.J.3
  • 255
    • 0037317936 scopus 로고    scopus 로고
    • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P
    • Hoffman H.M., Gregory S.G., Mueller J.L., et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum. Genet. 2003, 112:209-216.
    • (2003) Hum. Genet. , vol.112 , pp. 209-216
    • Hoffman, H.M.1    Gregory, S.G.2    Mueller, J.L.3
  • 256
    • 33847364065 scopus 로고    scopus 로고
    • Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist
    • Thornton B.D., Hoffman H.M., Bhat A., et al. Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. Am. J. Kidney Dis. 2007, 49:477-481.
    • (2007) Am. J. Kidney Dis. , vol.49 , pp. 477-481
    • Thornton, B.D.1    Hoffman, H.M.2    Bhat, A.3
  • 257
    • 73649189052 scopus 로고
    • Wellsm: Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome
    • Muckle T.J. Wellsm: Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q. J. Med. 1962, 31:235-248.
    • (1962) Q. J. Med. , vol.31 , pp. 235-248
    • Muckle, T.J.1
  • 258
    • 1042290321 scopus 로고    scopus 로고
    • Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
    • Hawkins P.N., Lachmann H.J., Aganna E., et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004, 50:607-612.
    • (2004) Arthritis Rheum. , vol.50 , pp. 607-612
    • Hawkins, P.N.1    Lachmann, H.J.2    Aganna, E.3
  • 259
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    • Aksentijevich I., DP C., Remmers E.F., et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007, 56:1273-1285.
    • (2007) Arthritis Rheum. , vol.56 , pp. 1273-1285
    • Aksentijevich, I.1    Dp, C.2    Remmers, E.F.3
  • 260
    • 0028558578 scopus 로고
    • The arthropathy of the Muckle-Wells syndrome
    • Watts R.A., Nicholls A., Scott D.G. The arthropathy of the Muckle-Wells syndrome. Br. J. Rheumatol. 1994, 33:1184-1187.
    • (1994) Br. J. Rheumatol. , vol.33 , pp. 1184-1187
    • Watts, R.A.1    Nicholls, A.2    Scott, D.G.3
  • 261
    • 0028959120 scopus 로고
    • Recurrent urticarial skin eruption since infancy. Muckle-Wells syndrome (MWS)
    • 4-5
    • Nazzari G., Desirello G., Crovato F. Recurrent urticarial skin eruption since infancy. Muckle-Wells syndrome (MWS). Arch. Dermatol. 1995, 131:81-82. 4-5.
    • (1995) Arch. Dermatol. , vol.131 , pp. 81-82
    • Nazzari, G.1    Desirello, G.2    Crovato, F.3
  • 262
    • 0029870424 scopus 로고    scopus 로고
    • Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?
    • Throssell D., Feehally J., Trembath R., et al. Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?. Clin. Genet. 1996, 49:130-133.
    • (1996) Clin. Genet. , vol.49 , pp. 130-133
    • Throssell, D.1    Feehally, J.2    Trembath, R.3
  • 263
    • 12144288979 scopus 로고    scopus 로고
    • Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
    • Neven B., Callebaut I., Prieur A.M., et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004, 103:2809-2815.
    • (2004) Blood , vol.103 , pp. 2809-2815
    • Neven, B.1    Callebaut, I.2    Prieur, A.M.3
  • 264
    • 0037251380 scopus 로고    scopus 로고
    • CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes
    • Granel B., Philip N., Serratrice J., et al. CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. Dermatology 2003, 206:257-259.
    • (2003) Dermatology , vol.206 , pp. 257-259
    • Granel, B.1    Philip, N.2    Serratrice, J.3
  • 265
    • 0019425358 scopus 로고
    • Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
    • Prieur A.M., Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J. Pediatr. 1981, 99:79-83.
    • (1981) J. Pediatr. , vol.99 , pp. 79-83
    • Prieur, A.M.1    Griscelli, C.2
  • 266
    • 0020631580 scopus 로고
    • Neonatal onset multisystem inflammatory disease
    • Hassink S.G., Goldsmith D.P. Neonatal onset multisystem inflammatory disease. Arthritis Rheum. 1983, 26:668-673.
    • (1983) Arthritis Rheum. , vol.26 , pp. 668-673
    • Hassink, S.G.1    Goldsmith, D.P.2
  • 267
    • 33846219617 scopus 로고    scopus 로고
    • Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)
    • Hill S.C., Namde M., Dwyer A., et al. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr. Radiol. 2007, 37:145-152.
    • (2007) Pediatr. Radiol. , vol.37 , pp. 145-152
    • Hill, S.C.1    Namde, M.2    Dwyer, A.3
  • 268
    • 0024352428 scopus 로고
    • NOMID-a neonatal syndrome of multisystem inflammation
    • Torbiak R.P., Dent P.B., Cockshott W.P. NOMID-a neonatal syndrome of multisystem inflammation. Skeletal. Radiol. 1989, 18:359-364.
    • (1989) Skeletal. Radiol. , vol.18 , pp. 359-364
    • Torbiak, R.P.1    Dent, P.B.2    Cockshott, W.P.3
  • 269
    • 0035098521 scopus 로고    scopus 로고
    • A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy
    • Prieur A.M. A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin. Exp. Rheumatol. 2001, 19:103-106.
    • (2001) Clin. Exp. Rheumatol. , vol.19 , pp. 103-106
    • Prieur, A.M.1
  • 270
    • 0036899758 scopus 로고    scopus 로고
    • De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases
    • Aksentijevich I., Nowak M., Mallah M., et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002, 46:3340-3348.
    • (2002) Arthritis Rheum. , vol.46 , pp. 3340-3348
    • Aksentijevich, I.1    Nowak, M.2    Mallah, M.3
  • 271
    • 33746876396 scopus 로고    scopus 로고
    • Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    • Goldbach-Mansky R., Dailey N.J., Canna S.W., et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N. Engl. J. Med. 2006, 355:581-592.
    • (2006) N. Engl. J. Med. , vol.355 , pp. 581-592
    • Goldbach-Mansky, R.1    Dailey, N.J.2    Canna, S.W.3
  • 272
    • 0033778465 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood
    • Dollfus H., Hafner R., Hofmann H.M., et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch. Ophthalmol. 2000, 118:1386-1392.
    • (2000) Arch. Ophthalmol. , vol.118 , pp. 1386-1392
    • Dollfus, H.1    Hafner, R.2    Hofmann, H.M.3
  • 273
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • Feldmann J., Prieur A.M., Quartier P., et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet. 2002, 71:198-203.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3
  • 274
    • 18344385660 scopus 로고    scopus 로고
    • New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes
    • Dode C., Le Du N., Cuisset L., et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am. J. Hum. Genet. 2002, 70:1498-1506.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1498-1506
    • Dode, C.1    Le Du, N.2    Cuisset, L.3
  • 275
    • 40149105568 scopus 로고    scopus 로고
    • Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation
    • Jesus A.A., Silva C.A., Segundo G.R., et al. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation. J. Clin. Immunol. 2008, 28:134-138.
    • (2008) J. Clin. Immunol. , vol.28 , pp. 134-138
    • Jesus, A.A.1    Silva, C.A.2    Segundo, G.R.3
  • 276
    • 4043060827 scopus 로고    scopus 로고
    • Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1
    • Frenkel J., van Kempen M.J., Kuis W., et al. Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1. Arthritis Rheum. 2004, 50:2719-2720.
    • (2004) Arthritis Rheum. , vol.50 , pp. 2719-2720
    • Frenkel, J.1    van Kempen, M.J.2    Kuis, W.3
  • 277
    • 31944450555 scopus 로고    scopus 로고
    • Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene
    • Matsubayashi T., Sugiura H., Arai T., et al. Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr. 2006, 95:246-249.
    • (2006) Acta Paediatr. , vol.95 , pp. 246-249
    • Matsubayashi, T.1    Sugiura, H.2    Arai, T.3
  • 278
    • 41349094800 scopus 로고    scopus 로고
    • Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients
    • Saito M., Nishikomori R., Kambe N., et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 2008, 111:2132-2141.
    • (2008) Blood , vol.111 , pp. 2132-2141
    • Saito, M.1    Nishikomori, R.2    Kambe, N.3
  • 279
    • 27744440753 scopus 로고    scopus 로고
    • Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome
    • Saito M., Fujisawa A., Nishikomori R., et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2005, 52:3579-3585.
    • (2005) Arthritis Rheum. , vol.52 , pp. 3579-3585
    • Saito, M.1    Fujisawa, A.2    Nishikomori, R.3
  • 280
    • 0041332759 scopus 로고    scopus 로고
    • Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment
    • Rosen-Wolff A., Quietzsch J., Schroder H., et al. Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. Eur. J. Haematol. 2003, 71:215-219.
    • (2003) Eur. J. Haematol. , vol.71 , pp. 215-219
    • Rosen-Wolff, A.1    Quietzsch, J.2    Schroder, H.3
  • 281
    • 0037192793 scopus 로고    scopus 로고
    • PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B
    • Manji G.A., Wang L., Geddes B.J., et al. PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. J. Biol. Chem. 2002, 277:11570-11575.
    • (2002) J. Biol. Chem. , vol.277 , pp. 11570-11575
    • Manji, G.A.1    Wang, L.2    Geddes, B.J.3
  • 282
    • 33644985564 scopus 로고    scopus 로고
    • Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1
    • Sutterwala F.S., Ogura Y., Szczepanik M., et al. Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity 2006, 24:317-327.
    • (2006) Immunity , vol.24 , pp. 317-327
    • Sutterwala, F.S.1    Ogura, Y.2    Szczepanik, M.3
  • 283
    • 32944462834 scopus 로고    scopus 로고
    • Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3
    • Kanneganti T.D., Ozoren N., Body-Malapel M., et al. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature 2006, 440:233-236.
    • (2006) Nature , vol.440 , pp. 233-236
    • Kanneganti, T.D.1    Ozoren, N.2    Body-Malapel, M.3
  • 284
    • 32944470765 scopus 로고    scopus 로고
    • Cryopyrin activates the inflammasome in response to toxins and ATP
    • Mariathasan S., Weiss D.S., Newton K., et al. Cryopyrin activates the inflammasome in response to toxins and ATP. Nature 2006, 440:228-232.
    • (2006) Nature , vol.440 , pp. 228-232
    • Mariathasan, S.1    Weiss, D.S.2    Newton, K.3
  • 285
    • 32944468985 scopus 로고    scopus 로고
    • Gout-associated uric acid crystals activate the NALP3 inflammasome
    • Martinon F., Petrilli V., Mayor A., et al. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 2006, 440:237-241.
    • (2006) Nature , vol.440 , pp. 237-241
    • Martinon, F.1    Petrilli, V.2    Mayor, A.3
  • 286
    • 49449094179 scopus 로고    scopus 로고
    • Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies
    • Hoffman H.M., Throne M.L., Amar N.J., et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008, 58:2443-2452.
    • (2008) Arthritis Rheum. , vol.58 , pp. 2443-2452
    • Hoffman, H.M.1    Throne, M.L.2    Amar, N.J.3
  • 287
    • 5644230842 scopus 로고    scopus 로고
    • Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome
    • Janssen R., Verhard E., Lankester A., et al. Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2004, 50:3329-3333.
    • (2004) Arthritis Rheum. , vol.50 , pp. 3329-3333
    • Janssen, R.1    Verhard, E.2    Lankester, A.3
  • 288
    • 40549134473 scopus 로고    scopus 로고
    • Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome
    • Yamazaki T., Masumoto J., Agematsu K., et al. Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. Arthritis Rheum. 2008, 58:864-868.
    • (2008) Arthritis Rheum. , vol.58 , pp. 864-868
    • Yamazaki, T.1    Masumoto, J.2    Agematsu, K.3
  • 289
    • 34848875155 scopus 로고    scopus 로고
    • Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations
    • Gattorno M., Tassi S., Carta S., et al. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum. 2007, 56:3138-3148.
    • (2007) Arthritis Rheum. , vol.56 , pp. 3138-3148
    • Gattorno, M.1    Tassi, S.2    Carta, S.3
  • 290
    • 2542452727 scopus 로고    scopus 로고
    • Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC
    • Dowds T.A., Masumoto J., Zhu L., et al. Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J. Biol. Chem. 2004, 279:21924-21928.
    • (2004) J. Biol. Chem. , vol.279 , pp. 21924-21928
    • Dowds, T.A.1    Masumoto, J.2    Zhu, L.3
  • 291
    • 8444225132 scopus 로고    scopus 로고
    • Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
    • Hoffman H.M., Rosengren S., Boyle D.L., et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004, 364:1779-1785.
    • (2004) Lancet , vol.364 , pp. 1779-1785
    • Hoffman, H.M.1    Rosengren, S.2    Boyle, D.L.3
  • 292
    • 17244381937 scopus 로고    scopus 로고
    • Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inflammatory disease
    • Lovell D.J., Bowyer S.L., Solinger A.M. Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inflammatory disease. Arthritis Rheum. 2005, 52:1283-1286.
    • (2005) Arthritis Rheum. , vol.52 , pp. 1283-1286
    • Lovell, D.J.1    Bowyer, S.L.2    Solinger, A.M.3
  • 293
    • 38149140756 scopus 로고    scopus 로고
    • Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra
    • Kaipiainen-Seppanen O., Punnonen K., van Gijn M.E., et al. Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. Scand. J. Rheumatol. 2008, 37:75-76.
    • (2008) Scand. J. Rheumatol. , vol.37 , pp. 75-76
    • Kaipiainen-Seppanen, O.1    Punnonen, K.2    van Gijn, M.E.3
  • 294
    • 39449098500 scopus 로고    scopus 로고
    • New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes
    • Maksimovic L., Stirnemann J., Caux F., et al. New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology (Oxford) 2008, 47:309-310.
    • (2008) Rheumatology (Oxford) , vol.47 , pp. 309-310
    • Maksimovic, L.1    Stirnemann, J.2    Caux, F.3
  • 295
    • 8444229328 scopus 로고    scopus 로고
    • Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel
    • (author reply 9-40)
    • Frenkel J., Wulffraat N.M., Kuis W. Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. Arthritis Rheum. 2004, 50:3738-3739. (author reply 9-40).
    • (2004) Arthritis Rheum. , vol.50 , pp. 3738-3739
    • Frenkel, J.1    Wulffraat, N.M.2    Kuis, W.3
  • 296
    • 66649102432 scopus 로고    scopus 로고
    • Use of canakinumab in the cryopyrin-associated periodic syndrome
    • Lachmann H.J., Kone-Paut I., Kuemmerle-Deschner J.B., et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N. Engl. J. Med. 2009, 360:2416-2425.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 2416-2425
    • Lachmann, H.J.1    Kone-Paut, I.2    Kuemmerle-Deschner, J.B.3
  • 297
    • 33645125321 scopus 로고    scopus 로고
    • Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism
    • Rynne M., Maclean C., Bybee A., et al. Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann. Rheum. Dis. 2006, 65:533-534.
    • (2006) Ann. Rheum. Dis. , vol.65 , pp. 533-534
    • Rynne, M.1    Maclean, C.2    Bybee, A.3
  • 298
    • 33646492304 scopus 로고    scopus 로고
    • Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra
    • Mirault T., Launay D., Cuisset L., et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum. 2006, 54:1697-1700.
    • (2006) Arthritis Rheum. , vol.54 , pp. 1697-1700
    • Mirault, T.1    Launay, D.2    Cuisset, L.3
  • 299
    • 0037792866 scopus 로고    scopus 로고
    • Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
    • Hawkins P.N., Lachmann H.J., McDermott M.F. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N. Engl. J. Med. 2003, 348:2583-2584.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 2583-2584
    • Hawkins, P.N.1    Lachmann, H.J.2    McDermott, M.F.3
  • 300
    • 0023230159 scopus 로고
    • Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
    • Marshall G.S., Edwards K.M., Butler J., et al. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J. Pediatr. 1987, 110:43-46.
    • (1987) J. Pediatr. , vol.110 , pp. 43-46
    • Marshall, G.S.1    Edwards, K.M.2    Butler, J.3
  • 301
    • 0037387434 scopus 로고    scopus 로고
    • Update on treatment of Marshall's syndrome (PFAPA syndrome): report of five cases with review of the literature
    • Berlucchi M., Meini A., Plebani A., et al. Update on treatment of Marshall's syndrome (PFAPA syndrome): report of five cases with review of the literature. Ann. Otol. Rhinol. Laryngol. 2003, 112:365-369.
    • (2003) Ann. Otol. Rhinol. Laryngol. , vol.112 , pp. 365-369
    • Berlucchi, M.1    Meini, A.2    Plebani, A.3
  • 302
    • 0033504364 scopus 로고    scopus 로고
    • Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome
    • Padeh S., Brezniak N., Zemer D., et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J. Pediatr. 1999, 135:98-101.
    • (1999) J. Pediatr. , vol.135 , pp. 98-101
    • Padeh, S.1    Brezniak, N.2    Zemer, D.3
  • 303
    • 33747468990 scopus 로고    scopus 로고
    • Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response
    • Stojanov S., Hoffmann F., Kery A., et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur. Cytokine Netw. 2006, 17:90-97.
    • (2006) Eur. Cytokine Netw. , vol.17 , pp. 90-97
    • Stojanov, S.1    Hoffmann, F.2    Kery, A.3
  • 304
    • 69949145563 scopus 로고    scopus 로고
    • Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings
    • Valenzuela P.M., Majerson D., Tapia J.L., et al. Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. Clin. Rheumatol. 2009, 28:1235-1237.
    • (2009) Clin. Rheumatol. , vol.28 , pp. 1235-1237
    • Valenzuela, P.M.1    Majerson, D.2    Tapia, J.L.3
  • 305
    • 63449118441 scopus 로고    scopus 로고
    • Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome
    • Sampaio I.C., Rodrigo M.J., Monteiro Marques J.G. Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. Pediatr. Infect. Dis. J. 2009, 28:254-255.
    • (2009) Pediatr. Infect. Dis. J. , vol.28 , pp. 254-255
    • Sampaio, I.C.1    Rodrigo, M.J.2    Monteiro Marques, J.G.3
  • 306
    • 0033497857 scopus 로고    scopus 로고
    • Periodic fever syndrome in children
    • Thomas K.T., Feder H.M., Lawton A.R., et al. Periodic fever syndrome in children. J. Pediatr. 1999, 135:15-21.
    • (1999) J. Pediatr. , vol.135 , pp. 15-21
    • Thomas, K.T.1    Feder, H.M.2    Lawton, A.R.3
  • 307
    • 0033497422 scopus 로고    scopus 로고
    • Syndrome of periodic fever, aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA): what it isn't. What is it?
    • Long S.S. Syndrome of periodic fever, aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA): what it isn't. What is it?. J. Pediatr. 1999, 135:1-5.
    • (1999) J. Pediatr. , vol.135 , pp. 1-5
    • Long, S.S.1
  • 308
    • 35348967355 scopus 로고    scopus 로고
    • C-reactive protein in the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome
    • Forsvoll J.A., Oymar K. C-reactive protein in the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. Acta. Paediatr. 2007, 96:1670-1673.
    • (2007) Acta. Paediatr. , vol.96 , pp. 1670-1673
    • Forsvoll, J.A.1    Oymar, K.2
  • 309
    • 44949149009 scopus 로고    scopus 로고
    • Oral aphthous-like lesions, PFAPA syndrome: a review
    • Femiano F., Lanza A., Buonaiuto C., et al. Oral aphthous-like lesions, PFAPA syndrome: a review. J. Oral. Pathol. Med. 2008, 37:319-323.
    • (2008) J. Oral. Pathol. Med. , vol.37 , pp. 319-323
    • Femiano, F.1    Lanza, A.2    Buonaiuto, C.3
  • 311
    • 0034076130 scopus 로고    scopus 로고
    • Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome
    • Feder H.M. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Curr. Opin. Pediatr. 2000, 12:253-256.
    • (2000) Curr. Opin. Pediatr. , vol.12 , pp. 253-256
    • Feder, H.M.1
  • 312
    • 0024573375 scopus 로고
    • Periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis
    • Feder H.M., Bialecki C.A. Periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr. Infect. Dis. J. 1989, 8:186-187.
    • (1989) Pediatr. Infect. Dis. J. , vol.8 , pp. 186-187
    • Feder, H.M.1    Bialecki, C.A.2
  • 313
    • 0026557969 scopus 로고
    • Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis
    • Feder H.M. Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr. Infect. Dis. J. 1992, 11:318-321.
    • (1992) Pediatr. Infect. Dis. J. , vol.11 , pp. 318-321
    • Feder, H.M.1
  • 314
    • 0033024010 scopus 로고    scopus 로고
    • PFAPA syndrome (Periodic Fever, Aphthous stomatitis, pharyngitis, adenitis)
    • Lee W.I., Yang M.H., Lee K.F., et al. PFAPA syndrome (Periodic Fever, Aphthous stomatitis, pharyngitis, adenitis). Clin. Rheumatol. 1999, 18:207-213.
    • (1999) Clin. Rheumatol. , vol.18 , pp. 207-213
    • Lee, W.I.1    Yang, M.H.2    Lee, K.F.3
  • 315
    • 0024511046 scopus 로고
    • Possible role of tonsillectomy and adenoidectomy in children with recurrent fever and tonsillopharyngitis
    • Abramson J.S., Givner L.B., Thompson J.N. Possible role of tonsillectomy and adenoidectomy in children with recurrent fever and tonsillopharyngitis. Pediatr. Infect. Dis. J. 1989, 8:119-120.
    • (1989) Pediatr. Infect. Dis. J. , vol.8 , pp. 119-120
    • Abramson, J.S.1    Givner, L.B.2    Thompson, J.N.3
  • 316
    • 34548050230 scopus 로고    scopus 로고
    • A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome
    • Renko M., Salo E., Putto-Laurila A., et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J. Pediatr. 2007, 151:289-292.
    • (2007) J. Pediatr. , vol.151 , pp. 289-292
    • Renko, M.1    Salo, E.2    Putto-Laurila, A.3
  • 319
    • 67651085319 scopus 로고    scopus 로고
    • Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study
    • Garavello W., Romagnoli M., Gaini R.M. Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study. J. Pediatr. 2009, 155:250-253.
    • (2009) J. Pediatr. , vol.155 , pp. 250-253
    • Garavello, W.1    Romagnoli, M.2    Gaini, R.M.3
  • 321
    • 33749564027 scopus 로고    scopus 로고
    • PFAPA syndrome: new clinical aspects disclosed
    • Tasher D., Somekh E., Dalal I. PFAPA syndrome: new clinical aspects disclosed. Arch. Dis. Child 2006, 91:981-984.
    • (2006) Arch. Dis. Child , vol.91 , pp. 981-984
    • Tasher, D.1    Somekh, E.2    Dalal, I.3
  • 323
    • 0027403301 scopus 로고
    • Cyclic neutropenia: natural history and effects of long-term treatment with recombinant human granulocyte colony-stimulating factor
    • Dale D.C., Bolyard A.A., Hammond W.P. Cyclic neutropenia: natural history and effects of long-term treatment with recombinant human granulocyte colony-stimulating factor. Cancer Invest. 1993, 11:219-223.
    • (1993) Cancer Invest. , vol.11 , pp. 219-223
    • Dale, D.C.1    Bolyard, A.A.2    Hammond, W.P.3
  • 324
    • 0030459532 scopus 로고    scopus 로고
    • Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis
    • Palmer S.E., Stephens K., Dale D.C. Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am. J. Med. Genet. 1996, 66:413-422.
    • (1996) Am. J. Med. Genet. , vol.66 , pp. 413-422
    • Palmer, S.E.1    Stephens, K.2    Dale, D.C.3
  • 326
    • 0032757863 scopus 로고    scopus 로고
    • Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
    • Horwitz M., Benson K.F., Person R.E., et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat. Genet. 1999, 23:433-436.
    • (1999) Nat. Genet. , vol.23 , pp. 433-436
    • Horwitz, M.1    Benson, K.F.2    Person, R.E.3
  • 327
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale D.C., Person R.E., Bolyard A.A., et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000, 96:2317-2322.
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3
  • 328
    • 0041353534 scopus 로고    scopus 로고
    • Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase
    • Benson K.F., Li F.Q., Person R.E., et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat. Genet. 2003, 35:90-96.
    • (2003) Nat. Genet. , vol.35 , pp. 90-96
    • Benson, K.F.1    Li, F.Q.2    Person, R.E.3
  • 329
    • 0038757823 scopus 로고    scopus 로고
    • Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
    • Person R.E., Li F.Q., Duan Z., et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat. Genet. 2003, 34:308-312.
    • (2003) Nat. Genet. , vol.34 , pp. 308-312
    • Person, R.E.1    Li, F.Q.2    Duan, Z.3
  • 330
    • 1642619057 scopus 로고    scopus 로고
    • Hereditary neutropenia: dogs explain human neutrophil elastase mutations
    • Horwitz M., Benson K.F., Duan Z., et al. Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol. Med. 2004, 10:163-170.
    • (2004) Trends Mol. Med. , vol.10 , pp. 163-170
    • Horwitz, M.1    Benson, K.F.2    Duan, Z.3
  • 331
    • 33745597347 scopus 로고    scopus 로고
    • Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
    • Jung J., Bohn G., Allroth A., et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 2006, 108:362-369.
    • (2006) Blood , vol.108 , pp. 362-369
    • Jung, J.1    Bohn, G.2    Allroth, A.3
  • 332
    • 33847395071 scopus 로고    scopus 로고
    • Neutrophil elastase in cyclic and severe congenital neutropenia
    • Horwitz M.S., Duan Z., Korkmaz B., et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007, 109:1817-1824.
    • (2007) Blood , vol.109 , pp. 1817-1824
    • Horwitz, M.S.1    Duan, Z.2    Korkmaz, B.3
  • 333
    • 34548219046 scopus 로고    scopus 로고
    • Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
    • Salipante S.J., Benson K.F., Luty J., et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum. Mutat. 2007, 28:874-881.
    • (2007) Hum. Mutat. , vol.28 , pp. 874-881
    • Salipante, S.J.1    Benson, K.F.2    Luty, J.3
  • 334
    • 68949101392 scopus 로고    scopus 로고
    • Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase
    • Salipante S.J., Rojas M.E., Korkmaz B., et al. Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase. Mol. Cell Biol. 2009, 29:4394-4405.
    • (2009) Mol. Cell Biol. , vol.29 , pp. 4394-4405
    • Salipante, S.J.1    Rojas, M.E.2    Korkmaz, B.3
  • 335
    • 0015833936 scopus 로고
    • Colon ulceration and perforation in cyclic neutropenia
    • Geelhoed G.W., Kane M.A., Dale D.C., et al. Colon ulceration and perforation in cyclic neutropenia. J. Pediatr. Surg. 1973, 8:379-382.
    • (1973) J. Pediatr. Surg. , vol.8 , pp. 379-382
    • Geelhoed, G.W.1    Kane, M.A.2    Dale, D.C.3
  • 336
    • 0030722532 scopus 로고    scopus 로고
    • Clostridium septicum infection in children with cyclic neutropenia
    • Bar-Joseph G., Halberthal M., Sweed Y., et al. Clostridium septicum infection in children with cyclic neutropenia. J. Pediatr. 1997, 131:317-319.
    • (1997) J. Pediatr. , vol.131 , pp. 317-319
    • Bar-Joseph, G.1    Halberthal, M.2    Sweed, Y.3
  • 338
    • 0015907908 scopus 로고
    • Periodic hematopoiesis in human cyclic neutropenia
    • Dt Guerry, Dale D.C., Omine M., et al. Periodic hematopoiesis in human cyclic neutropenia. J. Clin. Invest. 1973, 52:3220-3230.
    • (1973) J. Clin. Invest. , vol.52 , pp. 3220-3230
    • Dt, G.1    Dale, D.C.2    Omine, M.3
  • 339
    • 0021150414 scopus 로고
    • Cyclic ultrastructural abnormalities in human cyclic neutropenia
    • Parmley R.T., Presbury G.J., Wang W.C., et al. Cyclic ultrastructural abnormalities in human cyclic neutropenia. Am. J. Pathol. 1984, 116:279-288.
    • (1984) Am. J. Pathol. , vol.116 , pp. 279-288
    • Parmley, R.T.1    Presbury, G.J.2    Wang, W.C.3
  • 340
    • 0035161158 scopus 로고    scopus 로고
    • Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia
    • Aprikyan A.A., Liles W.C., Rodger E., et al. Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood 2001, 97:147-153.
    • (2001) Blood , vol.97 , pp. 147-153
    • Aprikyan, A.A.1    Liles, W.C.2    Rodger, E.3
  • 341
    • 0022811967 scopus 로고
    • Adult-onset cyclic neutropenia is associated with increased large granular lymphocytes
    • Loughran T.P.J., Clark E.A., Price T.H., et al. Adult-onset cyclic neutropenia is associated with increased large granular lymphocytes. Blood 1986, 68:1082-1087.
    • (1986) Blood , vol.68 , pp. 1082-1087
    • Loughran, T.P.J.1    Clark, E.A.2    Price, T.H.3
  • 342
    • 0022976496 scopus 로고
    • Adult-onset cyclic neutropenia is a benign neoplasm associated with clonal proliferation of large granular lymphocytes
    • Loughran T.P., Hammond W.P. Adult-onset cyclic neutropenia is a benign neoplasm associated with clonal proliferation of large granular lymphocytes. J. Exp. Med. 1986, 164:2089-2094.
    • (1986) J. Exp. Med. , vol.164 , pp. 2089-2094
    • Loughran, T.P.1    Hammond, W.P.2
  • 343
    • 0024360994 scopus 로고
    • Treatment of cyclic neutropenia with granulocyte colony-stimulating factor
    • Hammond W.P., Price T.H., Souza L.M., et al. Treatment of cyclic neutropenia with granulocyte colony-stimulating factor. N. Engl. J. Med. 1989, 320:1306-1311.
    • (1989) N. Engl. J. Med. , vol.320 , pp. 1306-1311
    • Hammond, W.P.1    Price, T.H.2    Souza, L.M.3
  • 344
    • 0027942372 scopus 로고
    • Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias
    • Bonilla M.A., Dale D., Zeidler C., et al. Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. Br. J. Haematol. 1994, 88:723-730.
    • (1994) Br. J. Haematol. , vol.88 , pp. 723-730
    • Bonilla, M.A.1    Dale, D.2    Zeidler, C.3
  • 345
    • 0030804743 scopus 로고    scopus 로고
    • A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
    • Lindor N.M., Arsenault T.M., Solomon H., et al. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo. Clin. Proc. 1997, 72:611-615.
    • (1997) Mayo. Clin. Proc. , vol.72 , pp. 611-615
    • Lindor, N.M.1    Arsenault, T.M.2    Solomon, H.3
  • 346
    • 0033912687 scopus 로고    scopus 로고
    • Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
    • Yeon H.B., Lindor N.M., Seidman J.G., et al. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am. J. Hum. Genet. 2000, 66:1443-1448.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1443-1448
    • Yeon, H.B.1    Lindor, N.M.2    Seidman, J.G.3
  • 347
    • 0037091012 scopus 로고    scopus 로고
    • Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    • Wise C.A., Gillum J.D., Seidman C.E., et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum. Mol. Genet. 2002, 11:961-969.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 961-969
    • Wise, C.A.1    Gillum, J.D.2    Seidman, C.E.3
  • 348
    • 19644375183 scopus 로고    scopus 로고
    • Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome
    • Stichweh D.S., Punaro M., Pascual V. Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatr. Dermatol. 2005, 22:262-265.
    • (2005) Pediatr. Dermatol. , vol.22 , pp. 262-265
    • Stichweh, D.S.1    Punaro, M.2    Pascual, V.3
  • 349
    • 67650222428 scopus 로고    scopus 로고
    • Pyrin modulates the intracellular distribution of PSTPIP1
    • Waite A.L., Schaner P., Richards N., et al. Pyrin modulates the intracellular distribution of PSTPIP1. PLoS. One 2009, 4:e6147.
    • (2009) PLoS. One , vol.4
    • Waite, A.L.1    Schaner, P.2    Richards, N.3
  • 350
    • 33646492488 scopus 로고    scopus 로고
    • CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST
    • Yang H., Reinherz E.L. CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST. J. Immunol. 2006, 176:5898-5907.
    • (2006) J. Immunol. , vol.176 , pp. 5898-5907
    • Yang, H.1    Reinherz, E.L.2
  • 351
    • 0037169501 scopus 로고    scopus 로고
    • PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP
    • Cote J.F., Chung P.L., Theberge J.F., et al. PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP. J. Biol. Chem. 2002, 277:2973-2986.
    • (2002) J. Biol. Chem. , vol.277 , pp. 2973-2986
    • Cote, J.F.1    Chung, P.L.2    Theberge, J.F.3
  • 352
    • 0344823965 scopus 로고    scopus 로고
    • Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    • Shoham N.G., Centola M., Mansfield E., et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:13501-13506.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 13501-13506
    • Shoham, N.G.1    Centola, M.2    Mansfield, E.3
  • 353
    • 35348934890 scopus 로고    scopus 로고
    • Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants
    • Yu J.W., Fernandes-Alnemri T., Datta P., et al. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol. Cell 2007, 28:214-227.
    • (2007) Mol. Cell , vol.28 , pp. 214-227
    • Yu, J.W.1    Fernandes-Alnemri, T.2    Datta, P.3
  • 354
    • 9744236591 scopus 로고    scopus 로고
    • Abnormal production of tumor necrosis factor (TNF)-alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]
    • Cortis E., De Benedetti F., Insalaco A., et al. Abnormal production of tumor necrosis factor (TNF)-alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]. J. Pediatr. 2004, 145:851-855.
    • (2004) J. Pediatr. , vol.145 , pp. 851-855
    • Cortis, E.1    De Benedetti, F.2    Insalaco, A.3
  • 355
  • 356
    • 27344446492 scopus 로고    scopus 로고
    • Intermittent and periodic arthritis syndromes
    • W.J. Koopman, L.W. Moreland (Eds.)
    • Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes. Arthritis and Allied conditions 2005, 1411-1461. fifteenth ed. W.J. Koopman, L.W. Moreland (Eds.).
    • (2005) Arthritis and Allied conditions , pp. 1411-1461
    • Kastner, D.L.1    Aksentijevich, I.2


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