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Volumn 37, Issue 1, 2008, Pages 75-76

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra [1]

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

EID: 38149140756     PISSN: 03009742     EISSN: 15027732     Source Type: Journal    
DOI: 10.1080/03009740701691491     Document Type: Letter
Times cited : (6)

References (10)
  • 1
    • 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 HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genetics 2001;29:301-5.
    • (2001) Nature Genetics , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3    Wanderer, A.A.4    Kolodner, R.D.5
  • 2
    • 0037317936 scopus 로고    scopus 로고
    • Fine structure mapping of CIAS1: Identification of an ancestral haplotype and a common FCAS mutation, L353P
    • Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet 2003;112:209-16.
    • (2003) Hum Genet , vol.112 , pp. 209-216
    • Hoffman, H.M.1    Gregory, S.G.2    Mueller, J.L.3    Tresierras, M.4    Broide, D.H.5    Wanderer, A.A.6
  • 3
    • 12144288979 scopus 로고    scopus 로고
    • 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 AM, Feldman J, Bodemer C, Lepore L, 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;103:2809-15.
    • (2004) Blood , vol.103 , pp. 2809-2815
    • Neven, B.1    Callebaut, I.2    Prieur, A.M.3    Feldman, J.4    Bodemer, C.5    Lepore, L.6
  • 5
    • 8444225132 scopus 로고    scopus 로고
    • Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
    • Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779-85.
    • (2004) Lancet , vol.364 , pp. 1779-1785
    • Hoffman, H.M.1    Rosengren, S.2    Boyle, D.L.3    Cho, J.Y.4    Nayar, J.5    Mueller, J.L.6
  • 6
    • 33749990239 scopus 로고    scopus 로고
    • Anakinra prevents symptoms of familial autoinflammatory syndrome and Raynaud's disease
    • Metyas SK, Hoffman HM. Anakinra prevents symptoms of familial autoinflammatory syndrome and Raynaud's disease. J Rheumatol 2006;33:2085-7.
    • (2006) J Rheumatol , vol.33 , pp. 2085-2087
    • Metyas, S.K.1    Hoffman, H.M.2
  • 8
    • 4644370590 scopus 로고    scopus 로고
    • A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy
    • Stojanov S, Weiss M, Lohse P, Belohradsky BH. A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. Pediatrics 2004;114:124-7.
    • (2004) Pediatrics , vol.114 , pp. 124-127
    • Stojanov, S.1    Weiss, M.2    Lohse, P.3    Belohradsky, B.H.4
  • 9
    • 31944450555 scopus 로고    scopus 로고
    • Anakinra therapy for CINCA syndrome with novel mutation in exon 4 of the CIAS1 gene
    • Matsubayashi T, Suguira H, Arai T, Oh-ishi T, Inamo Y. Anakinra therapy for CINCA syndrome with novel mutation in exon 4 of the CIAS1 gene. Acta Paediatr 2006;95:246-9.
    • (2006) Acta Paediatr , vol.95 , pp. 246-249
    • Matsubayashi, T.1    Suguira, H.2    Arai, T.3    Oh-ishi, T.4    Inamo, Y.5
  • 10
    • 0023894493 scopus 로고
    • A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients
    • Prieur AM, Griscelli C, Lampert F, Truchenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatology 1987;Suppl 66:57-68.
    • (1987) Scand J Rheumatology , Issue.SUPPL. 66 , pp. 57-68
    • Prieur, A.M.1    Griscelli, C.2    Lampert, F.3    Truchenbrodt, H.4    Guggenheim, M.A.5    Lovell, D.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.