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British Journal of Dermatology
Volumn 150, Issue 5, 2004, Pages 1029-1031
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation [2]
Author keywords

[No Author keywords available]
Indexed keywords

AGED; CASE REPORT; CLINICAL FEATURE; COLD URTICARIA; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LETTER; MALE; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; COLD; FAMILIAL MEDITERRANEAN FEVER; GENETICS; MUTATION; PEDIGREE; SYNDROME; URTICARIA;
EID: 3042703122     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2004.05927.x     Document Type: Letter
Times cited : (5)
References (8)
  • 1
    • 0034774916 scopus 로고    scopus 로고
    • Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
    • Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001; 108: 615-20.
    • (2001) J Allergy Clin Immunol , vol.108 , pp. 615-620
    • Hoffman, H.M.1    Wanderer, A.A.2    Broide, D.H.3
  • 2
    • 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 et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-5.
    • (2001) Nat Genet , vol.29 , pp. 301-305
    • Hoffman, H.M.1    Mueller, J.L.2    Broide, D.H.3
  • 4
    • 0034802261 scopus 로고    scopus 로고
    • Hereditary periodic fever syndromes
    • McDermott MF, Frenkel J. Hereditary periodic fever syndromes. Neth J Med 2001; 59: 118-25.
    • (2001) Neth J Med , vol.59 , pp. 118-125
    • McDermott, M.F.1    Frenkel, J.2
  • 5
    • 0041827164 scopus 로고    scopus 로고
    • Nods, Nalps and Naip: Intracellular regulators of bacterial-induced inflammation
    • Chamaillard M, Girardin SE, Viala J, Philpott DJ. Nods, Nalps and Naip: intracellular regulators of bacterial-induced inflammation. Cell Microbiol 2003; 5: 581-92.
    • (2003) Cell Microbiol , vol.5 , pp. 581-592
    • Chamaillard, M.1    Girardin, S.E.2    Viala, J.3    Philpott, D.J.4
  • 6
    • 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 AM, 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. Am J Hum Genet 2002; 71: 198-203.
    • (2002) Am J Hum Genet , vol.71 , pp. 198-203
    • Feldmann, J.1    Prieur, A.M.2    Quartier, P.3
  • 7
    • 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 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
  • 8
    • 0037792866 scopus 로고    scopus 로고
    • Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
    • Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003; 348: 2583-4.
    • (2003) N Engl J Med , vol.348 , pp. 2583-2584
    • Hawkins, P.N.1    Lachmann, H.J.2    McDermott, M.F.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.