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Volumn 27, Issue 5, 2009, Pages 890-891

Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; ETANERCEPT; GLUTAMIC ACID; PREDNISONE;

EID: 72949102811     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (17)

References (10)
  • 1
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    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • MCDERMOTT MF, 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
  • 2
    • 33644878847 scopus 로고    scopus 로고
    • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: Pathogenetic and clinical implications
    • D'OSUALDO A, FERLITO F, PRIGIONE I et al.: Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications. Arthritis Rheum 2006; 54: 998-1008.
    • (2006) Arthritis Rheum , vol.54 , pp. 998-1008
    • D'Osualdo, A.1    Ferlito, F.2    Prigione, I.3
  • 3
    • 33747162175 scopus 로고    scopus 로고
    • Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome
    • TRAPS
    • LOBITO AA, KIMBERLEY FC, MUPPIDI JR 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
  • 4
    • 0034926933 scopus 로고    scopus 로고
    • The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    • AKSENTIJEVICH I, GALON J, SOARES M et al.: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001; 69: 301-314
    • (2001) Am J Hum Genet , vol.69 , pp. 301-314
    • Aksentijevich, I.1    Galon, J.2    Soares, M.3
  • 5
    • 45349095718 scopus 로고    scopus 로고
    • A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
    • GATTORNO M, SORMANI MP, D'OSUALDO A et al.: A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008; 58: 1823-1832
    • (2008) Arthritis Rheum , vol.58 , pp. 1823-1832
    • Gattorno, M.1    Sormani, M.P.2    D'Osualdo, A.3
  • 6
    • 10044298526 scopus 로고    scopus 로고
    • Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSFlA 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 TNFRSFlA 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
  • 7
    • 0036675112 scopus 로고    scopus 로고
    • The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    • THE FRENCH HERADITARY RECURRENT INFLAMMATORY DISORDER STUDY GROUP
    • DODÉ C, ANDRÉ M, BIENVENU T et al.: THE FRENCH HERADITARY RECURRENT INFLAMMATORY DISORDER STUDY GROUP. 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
    • Dodé, C.1    André, M.2    Bienvenu, T.3
  • 8
    • 3843119611 scopus 로고    scopus 로고
    • Novel treatments for tumor necrosis factor receptor-associated periodic syndrome (TRAPS): Case history of experience with infliximab and sirolimus post etanercept
    • DREWE E, POWELL RJ: Novel treatments for tumor necrosis factor receptor-associated periodic syndrome (TRAPS): case history of experience with infliximab and sirolimus post etanercept. Clin Exp Rheumatol 2002; 20 (Suppl. 26): S71.
    • (2002) Clin Exp Rheumatol , vol.20 , Issue.SUPPL. 26
    • Drewe, E.1    Powell, R.J.2
  • 9
    • 50249188364 scopus 로고    scopus 로고
    • Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment
    • STOJANOV S, DEJACO C, LOHSE P et al.: Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Ann Rheum Dis 2008; 67: 1292-1298
    • (2008) Ann Rheum Dis , vol.67 , pp. 1292-1298
    • Stojanov, S.1    Dejaco, C.2    Lohse, P.3
  • 10
    • 85081150821 scopus 로고    scopus 로고
    • Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: Comment on the articles by Hull et al. and Dode et al
    • DREWE E, LANYON PC, POWELL RJ: Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: comment on the articles by Hull et al. and Dode et al. Arthritis Rheum 2003; 48: 1769-1770
    • (2003) Arthritis Rheum , vol.48 , pp. 1769-1770
    • Drewe, E.1    Lanyon, P.C.2    Powell, R.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.