메뉴 건너뛰기




Volumn 22, Issue 5, 2008, Pages 811-829

Autoinflammatory diseases

Author keywords

autoinflammatory; Beh et; FMF; IL 1 blockade; recurrent fevers

Indexed keywords

ALPHA INTERFERON; ALPHA2A INTERFERON; AZATHIOPRINE; BISPHOSPHONIC ACID DERIVATIVE; C REACTIVE PROTEIN; CASPASE INHIBITOR; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CELL PROTEIN; COLCHICINE; CORTICOSTEROID DERIVATIVE; CYCLOPHOSPHAMIDE; CYCLOSPORIN; CYTOKINE; ETANERCEPT; HLA B51 ANTIGEN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLIXIMAB; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 1BETA; MEVALONATE KINASE; NONSTEROID ANTIINFLAMMATORY AGENT; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RILONACEPT; THALIDOMIDE; TOLL LIKE RECEPTOR; TUMOR NECROSIS FACTOR ANTIBODY; TUMOR NECROSIS FACTOR RECEPTOR 1;

EID: 56349142987     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.berh.2008.08.009     Document Type: Review
Times cited : (116)

References (89)
  • 2
    • 0037216780 scopus 로고    scopus 로고
    • The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    • Hull K.M., Shoham N., Chae J.J., et al. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Current Opinion in Rheumatology 15 1 (2003) 61-69
    • (2003) Current Opinion in Rheumatology , vol.15 , Issue.1 , pp. 61-69
    • Hull, K.M.1    Shoham, N.2    Chae, J.J.3
  • 3
    • 33744972617 scopus 로고    scopus 로고
    • The systemic autoinflammatory diseases: inborn errors of the innate immune system
    • Brydges S., and Kastner D.L. The systemic autoinflammatory diseases: inborn errors of the innate immune system. Current Topics in Microbiology and Immunology 305 (2006) 127-160
    • (2006) Current Topics in Microbiology and Immunology , vol.305 , pp. 127-160
    • Brydges, S.1    Kastner, D.L.2
  • 4
    • 33845951211 scopus 로고    scopus 로고
    • DAMPs, PAMPs and alarmins: all we need to know about danger
    • Bianchi M.E. DAMPs, PAMPs and alarmins: all we need to know about danger. Journal of Leukocyte Biology 81 1 (2007) 1-5
    • (2007) Journal of Leukocyte Biology , vol.81 , Issue.1 , pp. 1-5
    • Bianchi, M.E.1
  • 5
    • 33745847180 scopus 로고    scopus 로고
    • TLRs, NLRs and RLRs: a trinity of pathogen sensors that co-operate in innate immunity
    • Creagh E.M., and O'Neill L.A. TLRs, NLRs and RLRs: a trinity of pathogen sensors that co-operate in innate immunity. Trends in Immunology 27 8 (2006) 352-357
    • (2006) Trends in Immunology , vol.27 , Issue.8 , pp. 352-357
    • Creagh, E.M.1    O'Neill, L.A.2
  • 6
    • 38949091132 scopus 로고    scopus 로고
    • Distinct TLR- and NLR-mediated transcriptional responses to an intracellular pathogen
    • Leber J.H., Crimmins G.T., Raghavan S., et al. Distinct TLR- and NLR-mediated transcriptional responses to an intracellular pathogen. PLoS pathogens 4 1 (2008) e6
    • (2008) PLoS pathogens , vol.4 , Issue.1
    • Leber, J.H.1    Crimmins, G.T.2    Raghavan, S.3
  • 7
    • 5444222071 scopus 로고    scopus 로고
    • A common pathway in periodic fever syndromes
    • McDermott M.F. A common pathway in periodic fever syndromes. Trends in Immunology 25 9 (2004) 457-460
    • (2004) Trends in Immunology , vol.25 , Issue.9 , pp. 457-460
    • McDermott, M.F.1
  • 8
    • 0035179970 scopus 로고    scopus 로고
    • Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
    • Hoffman H.M., Mueller J.L., Broide D.H., et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genetics 29 3 (2001) 301-305
    • (2001) Nature Genetics , vol.29 , Issue.3 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3
  • 9
    • 0036302235 scopus 로고    scopus 로고
    • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
    • Feldmann J., Prieur A.M., Quartier P., et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. American Journal of Human Genetics 71 1 (2002) 198-203
    • (2002) American Journal of Human Genetics , vol.71 , Issue.1 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3
  • 10
    • 0036671894 scopus 로고    scopus 로고
    • The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
    • Martinon F., Burns K., and Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Molecular Cell 10 2 (2002) 417-426
    • (2002) Molecular Cell , vol.10 , Issue.2 , pp. 417-426
    • Martinon, F.1    Burns, K.2    Tschopp, J.3
  • 11
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • Agostini L., Martinon F., Burns K., et al. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20 3 (2004) 319-325
    • (2004) Immunity , vol.20 , Issue.3 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3
  • 12
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nature Genetics 17 1 (1997) 25-31
    • (1997) Nature Genetics , vol.17 , Issue.1 , pp. 25-31
    • The French FMF Consortium1
  • 13
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90 4 (1997) 797-807
    • (1997) Cell , vol.90 , Issue.4 , pp. 797-807
    • The International FMF Consortium1
  • 14
    • 33745631232 scopus 로고    scopus 로고
    • The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    • Chae J.J., Wood G., Masters S.L., et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proceedings of the National Academy of Sciences of the United States of America 103 26 (2006) 9982-9987
    • (2006) Proceedings of the National Academy of Sciences of the United States of America , vol.103 , Issue.26 , pp. 9982-9987
    • Chae, J.J.1    Wood, G.2    Masters, S.L.3
  • 15
    • 0037436868 scopus 로고    scopus 로고
    • Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
    • Dowds T.A., Masumoto J., Chen F.F., et al. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochemical and Biophysical Research Communications 302 3 (2003) 575-580
    • (2003) Biochemical and Biophysical Research Communications , vol.302 , Issue.3 , pp. 575-580
    • Dowds, T.A.1    Masumoto, J.2    Chen, F.F.3
  • 16
    • 34547138176 scopus 로고    scopus 로고
    • The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing
    • Papin S., Cuenin S., Agostini L., et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ (2007)
    • (2007) Cell Death Differ
    • Papin, S.1    Cuenin, S.2    Agostini, L.3
  • 17
    • 0344823965 scopus 로고    scopus 로고
    • Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    • Shoham N.G., Centola M., Mansfield E., et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proceedings of the National Academy of Sciences of the United States of America 100 23 (2003) 13501-13506
    • (2003) Proceedings of the National Academy of Sciences of the United States of America , vol.100 , Issue.23 , pp. 13501-13506
    • Shoham, N.G.1    Centola, M.2    Mansfield, E.3
  • 19
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth J.P., Cuisset L., Grateau G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nature Genetics 22 2 (1999) 178-181
    • (1999) Nature Genetics , vol.22 , Issue.2 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3
  • 20
    • 0032987982 scopus 로고    scopus 로고
    • Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    • Houten S.M., Kuis W., Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics 22 2 (1999) 175-177
    • (1999) Nature Genetics , vol.22 , Issue.2 , pp. 175-177
    • Houten, S.M.1    Kuis, W.2    Duran, M.3
  • 21
    • 0038724543 scopus 로고    scopus 로고
    • Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
    • Houten S.M., Frenkel J., and Waterham H.R. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cellular and Molecular Life Sciences 60 6 (2003) 1118-1134
    • (2003) Cellular and Molecular Life Sciences , vol.60 , Issue.6 , pp. 1118-1134
    • Houten, S.M.1    Frenkel, J.2    Waterham, H.R.3
  • 23
    • 0030888606 scopus 로고    scopus 로고
    • Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency
    • Hoffmann G.F., Wiesmann U.N., Brendel S., et al. Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency. Pediatric Research 41 4 Pt 1 (1997) 541-546
    • (1997) Pediatric Research , vol.41 , Issue.4 PART 1 , pp. 541-546
    • Hoffmann, G.F.1    Wiesmann, U.N.2    Brendel, S.3
  • 24
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott M.F., Aksentijevich I., Galon J., et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97 1 (1999) 133-144
    • (1999) Cell , vol.97 , Issue.1 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3
  • 26
    • 0033520080 scopus 로고    scopus 로고
    • High-affinity interactions of tumor necrosis factor receptor-associated factors (TRAFs) and CD40 require TRAF trimerization and CD40 multimerization
    • Pullen S.S., Labadia M.E., Ingraham R.H., et al. High-affinity interactions of tumor necrosis factor receptor-associated factors (TRAFs) and CD40 require TRAF trimerization and CD40 multimerization. Biochemistry 38 31 (1999) 10168-10177
    • (1999) Biochemistry , vol.38 , Issue.31 , pp. 10168-10177
    • Pullen, S.S.1    Labadia, M.E.2    Ingraham, R.H.3
  • 27
    • 40049104767 scopus 로고    scopus 로고
    • Ectodomain shedding of TNF receptor 1 induced by protein synthesis inhibitors regulates TNF-alpha-mediated activation of NF-kappaB and caspase-8
    • Ogura H., Tsukumo Y., Sugimoto H., et al. Ectodomain shedding of TNF receptor 1 induced by protein synthesis inhibitors regulates TNF-alpha-mediated activation of NF-kappaB and caspase-8. Experimental Cell Research 314 6 (2008) 1406-1414
    • (2008) Experimental Cell Research , vol.314 , Issue.6 , pp. 1406-1414
    • Ogura, H.1    Tsukumo, Y.2    Sugimoto, H.3
  • 28
    • 0034926933 scopus 로고    scopus 로고
    • The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    • Aksentijevich I., Galon J., Soares M., et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. American Journal of Human Genetics 69 2 (2001) 301-314
    • (2001) American Journal of Human Genetics , vol.69 , Issue.2 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3
  • 30
    • 32844473310 scopus 로고    scopus 로고
    • The tumour necrosis factor receptor-associated periodic syndrome: current concepts
    • Stojanov S., and McDermott M.F. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Reviews in Molecular Medicine 7 22 (2005) 1-18
    • (2005) Expert Reviews in Molecular Medicine , vol.7 , Issue.22 , pp. 1-18
    • Stojanov, S.1    McDermott, M.F.2
  • 31
    • 17844372780 scopus 로고    scopus 로고
    • Behcet's disease as an autoinflammatory disorder
    • Gul A. Behcet's disease as an autoinflammatory disorder. Current Drug Targets. Inflammation and Allergy 4 1 (2005) 81-83
    • (2005) Current Drug Targets. Inflammation and Allergy , vol.4 , Issue.1 , pp. 81-83
    • Gul, A.1
  • 32
    • 17844372694 scopus 로고    scopus 로고
    • Behcet's disease: an update on the pathogenesis
    • Gul A. Behcet's disease: an update on the pathogenesis. Clinical and Experimental Rheumatology 19 5 Suppl. 24 (2001) S6-S12
    • (2001) Clinical and Experimental Rheumatology , vol.19 , Issue.5 SUPPL. 24
    • Gul, A.1
  • 33
    • 0018194192 scopus 로고
    • Familial Behcet's syndrome
    • Abdel-Aziz A.H., and Fairburn E.A. Familial Behcet's syndrome. Cutis 21 5 (1978) 649-652
    • (1978) Cutis , vol.21 , Issue.5 , pp. 649-652
    • Abdel-Aziz, A.H.1    Fairburn, E.A.2
  • 34
    • 0033391242 scopus 로고    scopus 로고
    • Significant associations of HLA-B*5101 and B*5108, and lack of association of class II alleles with Behcet's disease in Italian patients
    • Kera J., Mizuki N., Ota M., et al. Significant associations of HLA-B*5101 and B*5108, and lack of association of class II alleles with Behcet's disease in Italian patients. Tissue Antigens 54 6 (1999) 565-571
    • (1999) Tissue Antigens , vol.54 , Issue.6 , pp. 565-571
    • Kera, J.1    Mizuki, N.2    Ota, M.3
  • 35
    • 0031026572 scopus 로고    scopus 로고
    • Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease
    • Mizuki N., Ota M., Kimura M., et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease. Proceedings of the National Academy of Sciences of the United States of America 94 4 (1997) 1298-1303
    • (1997) Proceedings of the National Academy of Sciences of the United States of America , vol.94 , Issue.4 , pp. 1298-1303
    • Mizuki, N.1    Ota, M.2    Kimura, M.3
  • 36
    • 0141792127 scopus 로고    scopus 로고
    • Identification of an autosomal recessive mode of inheritance in paediatric Behcet's families by segregation analysis
    • Molinari N., Kone Paut I., Manna R., et al. Identification of an autosomal recessive mode of inheritance in paediatric Behcet's families by segregation analysis. American Journal of Medical Genetics. Part A 122 2 (2003) 115-118
    • (2003) American Journal of Medical Genetics. Part A , vol.122 , Issue.2 , pp. 115-118
    • Molinari, N.1    Kone Paut, I.2    Manna, R.3
  • 37
    • 14944373440 scopus 로고    scopus 로고
    • Targeting the interleukin-6 receptor: a new treatment for systemic juvenile idiopathic arthritis?
    • de Benedetti F., and Martini A. Targeting the interleukin-6 receptor: a new treatment for systemic juvenile idiopathic arthritis?. Arthritis and Rheumatism 52 3 (2005) 687-693
    • (2005) Arthritis and Rheumatism , vol.52 , Issue.3 , pp. 687-693
    • de Benedetti, F.1    Martini, A.2
  • 38
    • 18644385243 scopus 로고    scopus 로고
    • Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade
    • Pascual V., Allantaz F., Arce E., et al. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. The Journal of Experimental Medicine 201 9 (2005) 1479-1486
    • (2005) The Journal of Experimental Medicine , vol.201 , Issue.9 , pp. 1479-1486
    • Pascual, V.1    Allantaz, F.2    Arce, E.3
  • 40
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model
    • Aksentijevich I., Putnam C.D., Remmers E.F., et al. The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis and Rheumatism 56 4 (2007) 1273-1285
    • (2007) Arthritis and Rheumatism , vol.56 , Issue.4 , pp. 1273-1285
    • Aksentijevich, I.1    Putnam, C.D.2    Remmers, E.F.3
  • 41
    • 0001645488 scopus 로고
    • Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF)
    • Heller H., Sohar E., and Pras M. Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathologia Et Microbiologia 24 (1961) 718-723
    • (1961) Pathologia Et Microbiologia , vol.24 , pp. 718-723
    • Heller, H.1    Sohar, E.2    Pras, M.3
  • 42
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • Livneh A., Langevitz P., Zemer D., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis and Rheumatism 40 10 (1997) 1879-1885
    • (1997) Arthritis and Rheumatism , vol.40 , Issue.10 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 43
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of Familial Mediterranean Fever (FMF) mutations
    • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. European Journal of Human Genetics 9 7 (2001) 473-483
    • (2001) European Journal of Human Genetics , vol.9 , Issue.7 , pp. 473-483
    • Touitou, I.1
  • 44
    • 34248571365 scopus 로고    scopus 로고
    • Country as the primary risk factor for renal amyloidosis in familial mediterranean fever
    • Touitou I., Sarkisian T., Medlej-Hashim M., et al. Country as the primary risk factor for renal amyloidosis in familial mediterranean fever. Arthritis and Rheumatism 56 5 (2007) 1706-1712
    • (2007) Arthritis and Rheumatism , vol.56 , Issue.5 , pp. 1706-1712
    • Touitou, I.1    Sarkisian, T.2    Medlej-Hashim, M.3
  • 45
    • 0022570984 scopus 로고
    • Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
    • Zemer D., Pras M., Sohar E., et al. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. The New England Journal of Medicine 314 16 (1986) 1001-1005
    • (1986) The New England Journal of Medicine , vol.314 , Issue.16 , pp. 1001-1005
    • Zemer, D.1    Pras, M.2    Sohar, E.3
  • 46
    • 5444253280 scopus 로고    scopus 로고
    • The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: a double-blind, placebo-controlled trial
    • Tunca M., Akar S., Soyturk M., et al. The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: a double-blind, placebo-controlled trial. Clinical and Experimental Rheumatology 22 4 Suppl. 34 (2004) S37-S40
    • (2004) Clinical and Experimental Rheumatology , vol.22 , Issue.4 SUPPL. 34
    • Tunca, M.1    Akar, S.2    Soyturk, M.3
  • 47
    • 33846114183 scopus 로고    scopus 로고
    • Successful treatment of nephrotic syndrome due to FMF amyloidosis with azathioprine: report of three Turkish cases
    • Sayarlioglu H., Erkoc R., Sayarlioglu M., et al. Successful treatment of nephrotic syndrome due to FMF amyloidosis with azathioprine: report of three Turkish cases. Rheumatology International (2006)
    • (2006) Rheumatology International
    • Sayarlioglu, H.1    Erkoc, R.2    Sayarlioglu, M.3
  • 48
    • 0036656517 scopus 로고    scopus 로고
    • Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient
    • Seyahi E., Ozdogan H., Masatlioglu S., and Yazici H. Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clinical and Experimental Rheumatology 20 4 Suppl. 26 (2002) S43-S44
    • (2002) Clinical and Experimental Rheumatology , vol.20 , Issue.4 SUPPL. 26
    • Seyahi, E.1    Ozdogan, H.2    Masatlioglu, S.3    Yazici, H.4
  • 50
    • 19644375183 scopus 로고    scopus 로고
    • Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome
    • Stichweh D.S., Punaro M., and Pascual V. Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatric Dermatology 22 3 (2005) 262-265
    • (2005) Pediatric Dermatology , vol.22 , Issue.3 , pp. 262-265
    • Stichweh, D.S.1    Punaro, M.2    Pascual, V.3
  • 51
    • 0034080217 scopus 로고    scopus 로고
    • Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene
    • Houten S.M., Frenkel J., Kuis W., et al. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. Journal of Inherited Metabolic Disease 23 4 (2000) 367-370
    • (2000) Journal of Inherited Metabolic Disease , vol.23 , Issue.4 , pp. 367-370
    • Houten, S.M.1    Frenkel, J.2    Kuis, W.3
  • 52
    • 34248325296 scopus 로고    scopus 로고
    • Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome
    • Haas D., and Hoffmann G.F. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet Journal of Rare Diseases 1 (2006) 13
    • (2006) Orphanet Journal of Rare Diseases , vol.1 , pp. 13
    • Haas, D.1    Hoffmann, G.F.2
  • 53
    • 0034672705 scopus 로고    scopus 로고
    • Biochemical and genetic aspects of mevalonate kinase and its deficiency
    • Houten S.M., Wanders R.J., and Waterham H.R. Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochimica Et Biophysica Acta 1529 1-3 (2000) 19-32
    • (2000) Biochimica Et Biophysica Acta , vol.1529 , Issue.1-3 , pp. 19-32
    • Houten, S.M.1    Wanders, R.J.2    Waterham, H.R.3
  • 54
    • 0026736845 scopus 로고
    • Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria
    • Hoffmann G.F., Brendel S.U., Scharfschwerdt S.R., et al. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. Journal of Inherited Metabolic Disease 15 5 (1992) 738-746
    • (1992) Journal of Inherited Metabolic Disease , vol.15 , Issue.5 , pp. 738-746
    • Hoffmann, G.F.1    Brendel, S.U.2    Scharfschwerdt, S.R.3
  • 55
    • 34848837371 scopus 로고    scopus 로고
    • Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
    • Ammouri W., Cuisset L., Rouaghe S., et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford, England) 46 10 (2007) 1597-1600
    • (2007) Rheumatology (Oxford, England) , vol.46 , Issue.10 , pp. 1597-1600
    • Ammouri, W.1    Cuisset, L.2    Rouaghe, S.3
  • 56
    • 33745052318 scopus 로고    scopus 로고
    • AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases
    • Lachmann H.J., Goodman H.J., Andrews P.A., et al. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis and Rheumatism 54 6 (2006) 2010-2014
    • (2006) Arthritis and Rheumatism , vol.54 , Issue.6 , pp. 2010-2014
    • Lachmann, H.J.1    Goodman, H.J.2    Andrews, P.A.3
  • 57
    • 2042501706 scopus 로고    scopus 로고
    • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
    • Simon A., Drewe E., van der Meer J.W., et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clinical Pharmacology and Therapeutics 75 5 (2004) 476-483
    • (2004) Clinical Pharmacology and Therapeutics , vol.75 , Issue.5 , pp. 476-483
    • Simon, A.1    Drewe, E.2    van der Meer, J.W.3
  • 58
    • 23844552119 scopus 로고    scopus 로고
    • Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model
    • Bodar E.J., van der Hilst J.C., Drenth J.P., et al. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. The Netherlands Journal of Medicine 63 7 (2005) 260-264
    • (2005) The Netherlands Journal of Medicine , vol.63 , Issue.7 , pp. 260-264
    • Bodar, E.J.1    van der Hilst, J.C.2    Drenth, J.P.3
  • 59
    • 0034888835 scopus 로고    scopus 로고
    • Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial
    • Drenth J.P., Vonk A.G., Simon A., et al. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. The Journal of Pharmacology and Experimental Therapeutics 298 3 (2001) 1221-1226
    • (2001) The Journal of Pharmacology and Experimental Therapeutics , vol.298 , Issue.3 , pp. 1221-1226
    • Drenth, J.P.1    Vonk, A.G.2    Simon, A.3
  • 61
    • 33747780470 scopus 로고    scopus 로고
    • Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    • Ravet N., Rouaghe S., Dode C., et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Annals of the Rheumatic Diseases 65 9 (2006) 1158-1162
    • (2006) Annals of the Rheumatic Diseases , vol.65 , Issue.9 , pp. 1158-1162
    • Ravet, N.1    Rouaghe, S.2    Dode, C.3
  • 62
    • 0037295409 scopus 로고    scopus 로고
    • Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients
    • Drewe E., McDermott E.M., Powell P.T., et al. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford, England) 42 2 (2003) 235-239
    • (2003) Rheumatology (Oxford, England) , vol.42 , Issue.2 , pp. 235-239
    • Drewe, E.1    McDermott, E.M.2    Powell, P.T.3
  • 63
    • 43949128071 scopus 로고    scopus 로고
    • Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
    • Gattorno M., Pelagatti M.A., Meini A., et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis and Rheumatism 58 5 (2008) 1516-1520
    • (2008) Arthritis and Rheumatism , vol.58 , Issue.5 , pp. 1516-1520
    • Gattorno, M.1    Pelagatti, M.A.2    Meini, A.3
  • 68
    • 0019512133 scopus 로고
    • Colchicine in the treatment of the cutaneous manifestations of Behcet's disease
    • Miyachi Y., Taniguchi S., Ozaki M., and Horio T. Colchicine in the treatment of the cutaneous manifestations of Behcet's disease. The British Journal of Dermatology 104 1 (1981) 67-69
    • (1981) The British Journal of Dermatology , vol.104 , Issue.1 , pp. 67-69
    • Miyachi, Y.1    Taniguchi, S.2    Ozaki, M.3    Horio, T.4
  • 69
    • 0032520803 scopus 로고    scopus 로고
    • Thalidomide in the treatment of the mucocutaneous lesions of the Behcet syndrome. A randomized, double-blind, placebo-controlled trial
    • Hamuryudan V., Mat C., Saip S., et al. Thalidomide in the treatment of the mucocutaneous lesions of the Behcet syndrome. A randomized, double-blind, placebo-controlled trial. Annals of Internal Medicine 128 6 (1998) 443-450
    • (1998) Annals of Internal Medicine , vol.128 , Issue.6 , pp. 443-450
    • Hamuryudan, V.1    Mat, C.2    Saip, S.3
  • 70
    • 0022555918 scopus 로고
    • Behcet's syndrome: treatment with recombinant leukocyte alpha- interferon
    • Tsambaos D., Eichelberg D., and Goos M. Behcet's syndrome: treatment with recombinant leukocyte alpha- interferon. Archives for Dermatological Research 278 4 (1986) 335-336
    • (1986) Archives for Dermatological Research , vol.278 , Issue.4 , pp. 335-336
    • Tsambaos, D.1    Eichelberg, D.2    Goos, M.3
  • 72
    • 11144354258 scopus 로고    scopus 로고
    • Differential efficacy of human recombinant interferon-alpha2a on ocular and extraocular manifestations of Behcet disease: results of an open 4-center trial
    • Kotter I., Vonthein R., Zierhut M., et al. Differential efficacy of human recombinant interferon-alpha2a on ocular and extraocular manifestations of Behcet disease: results of an open 4-center trial. Seminars in Arthritis and Rheumatism 33 5 (2004) 311-319
    • (2004) Seminars in Arthritis and Rheumatism , vol.33 , Issue.5 , pp. 311-319
    • Kotter, I.1    Vonthein, R.2    Zierhut, M.3
  • 73
    • 34848901715 scopus 로고    scopus 로고
    • Efficacy and safety of interferon-alpha in the treatment of corticodependent uveitis of paediatric Behcet's disease
    • Guillaume-Czitrom S., Berger C., Pajot C., et al. Efficacy and safety of interferon-alpha in the treatment of corticodependent uveitis of paediatric Behcet's disease. Rheumatology (Oxford, England) 46 10 (2007) 1570-1573
    • (2007) Rheumatology (Oxford, England) , vol.46 , Issue.10 , pp. 1570-1573
    • Guillaume-Czitrom, S.1    Berger, C.2    Pajot, C.3
  • 74
    • 11844283956 scopus 로고    scopus 로고
    • Short-term trial of etanercept in Behcet's disease: a double blind, placebo controlled study
    • Melikoglu M., Fresko I., Mat C., et al. Short-term trial of etanercept in Behcet's disease: a double blind, placebo controlled study. The Journal of Rheumatology 32 1 (2005) 98-105
    • (2005) The Journal of Rheumatology , vol.32 , Issue.1 , pp. 98-105
    • Melikoglu, M.1    Fresko, I.2    Mat, C.3
  • 75
    • 44849122715 scopus 로고    scopus 로고
    • The infevers autoinflammatory mutation online registry: update with new genes and functions
    • Milhavet F., Cuisset L., Hoffman H.M., et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Human Mutation 29 6 (2008) 803-808
    • (2008) Human Mutation , vol.29 , Issue.6 , pp. 803-808
    • Milhavet, F.1    Cuisset, L.2    Hoffman, H.M.3
  • 76
    • 0034268002 scopus 로고    scopus 로고
    • MEFV mutations in Behcet's disease
    • Touitou I., Magne X., Molinari N., et al. MEFV mutations in Behcet's disease. Human Mutation 16 3 (2000) 271-272
    • (2000) Human Mutation , vol.16 , Issue.3 , pp. 271-272
    • Touitou, I.1    Magne, X.2    Molinari, N.3
  • 77
    • 0141669189 scopus 로고    scopus 로고
    • MEFV mutations are increased in Behcet's disease (BD) and are associated with vascular involvement
    • Atagunduz P., Ergun T., and Direskeneli H. MEFV mutations are increased in Behcet's disease (BD) and are associated with vascular involvement. Clinical and Experimental Rheumatology 21 4 Suppl. 30 (2003) S35-S37
    • (2003) Clinical and Experimental Rheumatology , vol.21 , Issue.4 SUPPL. 30
    • Atagunduz, P.1    Ergun, T.2    Direskeneli, H.3
  • 78
    • 13444310437 scopus 로고    scopus 로고
    • Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behcet's disease
    • Amoura Z., Dode C., Hue S., et al. Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behcet's disease. Arthritis and Rheumatism 52 2 (2005) 608-611
    • (2005) Arthritis and Rheumatism , vol.52 , Issue.2 , pp. 608-611
    • Amoura, Z.1    Dode, C.2    Hue, S.3
  • 80
    • 8344258346 scopus 로고    scopus 로고
    • Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome
    • Drewe E., Huggins M.L., Morgan A.G., et al. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford, England) 43 11 (2004) 1405-1408
    • (2004) Rheumatology (Oxford, England) , vol.43 , Issue.11 , pp. 1405-1408
    • Drewe, E.1    Huggins, M.L.2    Morgan, A.G.3
  • 81
    • 0141453408 scopus 로고    scopus 로고
    • Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    • Takada K., Aksentijevich I., Mahadevan V., et al. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis and Rheumatism 48 9 (2003) 2645-2651
    • (2003) Arthritis and Rheumatism , vol.48 , Issue.9 , pp. 2645-2651
    • Takada, K.1    Aksentijevich, I.2    Mahadevan, V.3
  • 82
    • 9744236591 scopus 로고    scopus 로고
    • Abnormal production of tumor necrosis factor (TNF) - alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome
    • [corrected]
    • Cortis E., De Benedetti F., Insalaco A., et al. Abnormal production of tumor necrosis factor (TNF) - alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome. [corrected]. The Journal of Pediatrics 145 6 (2004) 851-855
    • (2004) The Journal of Pediatrics , vol.145 , Issue.6 , pp. 851-855
    • Cortis, E.1    De Benedetti, F.2    Insalaco, A.3
  • 83
    • 0035963872 scopus 로고    scopus 로고
    • Effect of infliximab on sight-threatening panuveitis in Behcet's disease
    • Sfikakis P.P., Theodossiadis P.G., Katsiari C.G., et al. Effect of infliximab on sight-threatening panuveitis in Behcet's disease. Lancet 358 9278 (2001) 295-296
    • (2001) Lancet , vol.358 , Issue.9278 , pp. 295-296
    • Sfikakis, P.P.1    Theodossiadis, P.G.2    Katsiari, C.G.3
  • 84
    • 0037231476 scopus 로고    scopus 로고
    • Long-term efficacy and safety of etanercept in children with polyarticular-course juvenile rheumatoid arthritis: interim results from an ongoing multicenter, open-label, extended-treatment trial
    • Lovell D.J., Giannini E.H., Reiff A., et al. Long-term efficacy and safety of etanercept in children with polyarticular-course juvenile rheumatoid arthritis: interim results from an ongoing multicenter, open-label, extended-treatment trial. Arthritis and Rheumatism 48 1 (2003) 218-226
    • (2003) Arthritis and Rheumatism , vol.48 , Issue.1 , pp. 218-226
    • Lovell, D.J.1    Giannini, E.H.2    Reiff, A.3
  • 85
    • 1042290321 scopus 로고    scopus 로고
    • Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
    • Hawkins P.N., Lachmann H.J., Aganna E., and McDermott M.F. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis and Rheumatism 50 2 (2004) 607-612
    • (2004) Arthritis and Rheumatism , vol.50 , Issue.2 , pp. 607-612
    • Hawkins, P.N.1    Lachmann, H.J.2    Aganna, E.3    McDermott, M.F.4
  • 86
    • 41849105723 scopus 로고    scopus 로고
    • The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever
    • Calligaris L., Marchetti F., Tommasini A., and Ventura A. The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. European Journal of Pediatrics 167 6 (2008) 695-696
    • (2008) European Journal of Pediatrics , vol.167 , Issue.6 , pp. 695-696
    • Calligaris, L.1    Marchetti, F.2    Tommasini, A.3    Ventura, A.4
  • 87
    • 0036682956 scopus 로고    scopus 로고
    • Allogenic bone marrow transplantation: cure for familial Mediterranean fever
    • Milledge J., Shaw P.J., Mansour A., et al. Allogenic bone marrow transplantation: cure for familial Mediterranean fever. Blood 100 3 (2002) 774-777
    • (2002) Blood , vol.100 , Issue.3 , pp. 774-777
    • Milledge, J.1    Shaw, P.J.2    Mansour, A.3
  • 88
    • 85055743159 scopus 로고    scopus 로고
    • Should patients with FMF undergo BMT?
    • author reply -6
    • Touitou I. Should patients with FMF undergo BMT?. Blood 101 3 (2003) 1205 author reply -6
    • (2003) Blood , vol.101 , Issue.3 , pp. 1205
    • Touitou, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.