메뉴 건너뛰기




Volumn 32, Issue 1, 2014, Pages 123-125

A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes

Author keywords

Angioedema; CAPS; Novel; Pericarditis; Rash

Indexed keywords

ADOLESCENT; ANTI-INFLAMMATORY AGENTS; CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MUTATION; PHENOTYPE; TREATMENT OUTCOME;

EID: 84894032236     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (9)
  • 1
    • 82955233705 scopus 로고    scopus 로고
    • familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases
    • SAVIC S, DICKIE LJ, BATTELLINO M, MCDERMOTT MF: familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases. Curr Opin Rheumatol 2012; 24: 103-12.
    • (2012) Curr Opin Rheumatol , vol.24 , pp. 103-12
    • Savic, S.1    Dickie, L.J.2    Battellino, M.3    Mcdermott, M.F.4
  • 2
    • 84856367507 scopus 로고    scopus 로고
    • Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1
    • GOLDBACH-MANSKY R: Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol 2012; 167: 391-404.
    • (2012) Clin Exp Immunol , vol.167 , pp. 391-404
    • Goldbach-Mansky, R.1
  • 3
    • 84860389457 scopus 로고    scopus 로고
    • Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes
    • KUEMMERLE-DESCHNER JB, HACHULLA E, CARTWRIGHT R et al.: Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis 2011; 70: 2095-102.
    • (2011) Ann Rheum Dis , vol.70 , pp. 2095-102
    • Kuemmerle-Deschner, J.B.1    Hachulla, E.2    Cartwright, R.3
  • 4
    • 79957456776 scopus 로고    scopus 로고
    • Current status of understanding the pathogenesis and management of patients with NOMID/CINCA
    • GOLDBACH-MANSKY R: Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep 2011; 13: 123-31.
    • (2011) Curr Rheumatol Rep , vol.13 , pp. 123-31
    • Goldbach-Mansky, R.1
  • 5
    • 84875963811 scopus 로고    scopus 로고
    • treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
    • Ter HAAR N, LACHMANN H, ÖZEN S et al.: treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013; 72: 678-85.
    • (2013) Ann Rheum Dis , vol.72 , pp. 678-85
    • Ter Haar, N.1    Lachmann, H.2    Özen, S.3
  • 6
    • 34247252063 scopus 로고    scopus 로고
    • The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    • AKSENTIJEVICH I, DPUTNAM C, REMMERS EF et al.: The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007; 56: 1273-85.
    • (2007) Arthritis Rheum , vol.56 , pp. 1273-85
    • Aksentijevich, I.1    Dputnam, C.2    Remmers, E.F.3
  • 7
    • 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 JULINDERR, ERIKSSON P, SÖDERKVIST P, SÄRNDAHLE: 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. 888-94
    • Verma, D.1    Lerm, M.2    Julinderr, B.3    Eriksson, P.4    Söderkvist, P.5    Särndahle6
  • 8
    • 84872736378 scopus 로고    scopus 로고
    • Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series
    • VITALE A, LUCHERINI OM, GALEAZZI M, FREDIANI B, CANTARINI L: Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clin Exp Rheumatol 2012; 30: 943-6.
    • (2012) Clin Exp Rheumatol , vol.30 , pp. 943-6
    • Vitale, A.1    Lucherini, O.M.2    Galeazzi, M.3    Frediani, B.4    Cantarini, L.5
  • 9
    • 34848875155 scopus 로고    scopus 로고
    • Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations
    • GATTORNO M, TASSI S, CARTA S et al.: Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 2007; 56: 3138-48.
    • (2007) Arthritis Rheum , vol.56 , pp. 3138-48
    • Gattorno, M.1    Tassi, S.2    Carta, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.