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Brief Report

Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives

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Pages 1577-1582 | Accepted 26 Mar 2008, Published online: 17 Apr 2008

References

  • Hoffman M. Familial Cold Auto-inflammatory Syndrome. Orphanet EncyclopediaFebruary2005 Available at: http://www.orpha.net/data/patho/Pro/en/FamilialColdUrticaria-FRenPro10608.pdf [Last accessed: 23 January 2008]
  • Aksentijevich I, Putnam CD, Remmers EF, . The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56: 1273–85
  • Stojanov S, Kastner DL. Familial auto-inflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17: 586–99
  • Hoffman HM, Wanderer AA, Broide DH. Familial cold auto-inflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001;108: 615–20
  • Lequerre T, Vittecoq O, Saugier-Veber P, . A cryopyrin-associated periodic syndrome with joint destruction. Rheumatology (Oxford) 2007;46: 709–14
  • Shalev SA, Sprecher E, Indelman M, . A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold auto-inflammatory syndrome in a family of Ethiopian origin. Int Arch Allergy Immunol 2007;143: 190–3
  • Porksen G, Lohse P, Rosen-Wolff A, . 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 auto-inflammatory syndrome. Eur J Haematol 2004;73: 123–7
  • Hoffman HM, Mueller JL, Broide DH, . 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

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