메뉴 건너뛰기




Volumn 62, Issue 7, 2010, Pages 2138-2143

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; C REACTIVE PROTEIN; CETIRIZINE; COLCHICINE; CORTICOSTEROID; CRYOPYRIN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DNA; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; KETOPROFEN; METHOTREXATE; METHYLPREDNISOLONE; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

EID: 77954229474     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27489     Document Type: Article
Times cited : (19)

References (14)
  • 1
    • 1642285783 scopus 로고    scopus 로고
    • NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
    • DOI 10.1016/S1074-7613(04)00046-9, PII S1074761304000469
    • Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319-25. (Pubitemid 38388233)
    • (2004) Immunity , vol.20 , Issue.3 , pp. 319-325
    • Agostini, L.1    Martinon, F.2    Burns, K.3    McDermott, M.F.4    Hawkins, P.N.5    Tschopp, J.6
  • 2
    • 33745686186 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) and beyond: A new horizon
    • Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005
    • Ozen S, Hoffman HM, Frenkel J, Kastner D. Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005. Ann Rheum Dis 2006;65:961-4.
    • (2006) Ann Rheum Dis , vol.65 , pp. 961-964
    • Ozen, S.1    Hoffman, H.M.2    Frenkel, J.3    Kastner, D.4
  • 3
    • 1042290321 scopus 로고    scopus 로고
    • Spectrum of Clinical Features in Muckle-Wells Syndrome and Response to Anakinra
    • DOI 10.1002/art.20033
    • Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607-12. (Pubitemid 38198844)
    • (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
  • 4
    • 67650354198 scopus 로고    scopus 로고
    • Recurrent febrile syndromes: What a rheumatologist needs to know
    • Hoffman HM, Simon A. Recurrent febrile syndromes: what a rheumatologist needs to know. Nat Rev Rheumatol 2009;5:249-56.
    • (2009) Nat Rev Rheumatol , vol.5 , pp. 249-256
    • Hoffman, H.M.1    Simon, A.2
  • 5
    • 40549084310 scopus 로고    scopus 로고
    • Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: Relation to common inflammatory diseases?
    • Verma D, Lerm M, Blomgran Julinder R, Eriksson P, Soderkvist P, Sarndahl E. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis Rheum 2008;58:888-94.
    • (2008) Arthritis Rheum , vol.58 , pp. 888-894
    • Verma, D.1    Lerm, M.2    Blomgran Julinder, R.3    Eriksson, P.4    Soderkvist, P.5    Sarndahl, E.6
  • 7
    • 43049177426 scopus 로고    scopus 로고
    • Deficiency of the NF-κB inhibitor caspase activating and recruitment domain 8 in patients with rheumatoid arthritis is associated with disease severity
    • Fontalba A, Martinez-Taboada V, Gutierrez O, Pipaon C, Benito N, Balsa A, et al. Deficiency of the NF-κB inhibitor caspase activating and recruitment domain 8 in patients with rheumatoid arthritis is associated with disease severity. J Immunol 2007;179:4867-73.
    • (2007) J Immunol , vol.179 , pp. 4867-4873
    • Fontalba, A.1    Martinez-Taboada, V.2    Gutierrez, O.3    Pipaon, C.4    Benito, N.5    Balsa, A.6
  • 9
    • 39449098500 scopus 로고    scopus 로고
    • New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes
    • Oxford
    • Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, et al. New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology (Oxford) 2008;47:309-10.
    • (2008) Rheumatology , vol.47 , pp. 309-310
    • Maksimovic, L.1    Stirnemann, J.2    Caux, F.3    Ravet, N.4    Rouaghe, S.5    Cuisset, L.6
  • 10
    • 34848875155 scopus 로고    scopus 로고
    • Pattern of interleukin-1β secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations
    • Gattorno M, Tassi S, Carta S, Delfino L, Ferlito F, Pelagatti MA, et al. Pattern of interleukin-1β secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 2007;56:3138-48.
    • (2007) Arthritis Rheum , vol.56 , pp. 3138-3148
    • Gattorno, M.1    Tassi, S.2    Carta, S.3    Delfino, L.4    Ferlito, F.5    Pelagatti, M.A.6
  • 11
    • 33644871635 scopus 로고    scopus 로고
    • A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages
    • Shemon AN, Sluyter R, Fernando SL, Clarke AL, Dao-Ung LP, Skarratt KK, et al. A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages. J Biol Chem 2006;281:2079-86.
    • (2006) J Biol Chem , vol.281 , pp. 2079-2086
    • Shemon, A.N.1    Sluyter, R.2    Fernando, S.L.3    Clarke, A.L.4    Dao-Ung, L.P.5    Skarratt, K.K.6
  • 12
    • 0029979369 scopus 로고    scopus 로고
    • Biologic basis for interleukin-1 in disease
    • Dinarello CA. Biologic basis for interleukin-1 in disease. Blood 1996;87:2095-147.
    • (1996) Blood , vol.87 , pp. 2095-2147
    • Dinarello, C.A.1
  • 14
    • 3242742145 scopus 로고    scopus 로고
    • Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients: Expanding phenotype of CIAS1 related autoinflammatory syndrome
    • Porksen G, Lohse P, Rosen-Wolff A, Heyden S, Forster T, Wendisch J, et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients: expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur J Haematol 2004;73:123-7.
    • (2004) Eur J Haematol , vol.73 , pp. 123-127
    • Porksen, G.1    Lohse, P.2    Rosen-Wolff, A.3    Heyden, S.4    Forster, T.5    Wendisch, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.