-
2
-
-
0033515520
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
42
-
-
0037792866
-
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
-
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
-
45
-
-
0034076130
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
261
-
-
0028959120
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
269
-
-
0035098521
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
297
-
-
33645125321
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
307
-
-
0033497422
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
356
-
-
27344446492
-
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
-
357
-
-
77950363011
-
-
Kastner D.L., Aksentijevich I., Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective, Cell 2010, 140:784-790.
-
(2010)
Autoinflammatory disease reloaded: a clinical perspective, Cell
, vol.140
, pp. 784-790
-
-
Kastner, D.L.1
Aksentijevich, I.2
Goldbach-Mansky, R.3
|