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- Title
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.
- Authors
Shalev, Stavit A; Sprecher, Eli; Indelman, Margarita; Hujirat, Yaser; Bergman, Reuven; Rottem, Menachem
- Abstract
Cold-induced urticaria is a form of physical urticaria which is characterized by rapid onset of pruritus, erythema, and swelling after exposure to a cold stimulus. Familial cold autoinflammatory syndrome (FCAS) is a rare autosomal-dominant condition characterized by unremitting attacks of cold-induced urticaria, often accompanied by other systemic manifestations. The disorder was previously shown to be caused by mutations in CIAS1, encoding a pyrin-like protein also involved in the pathogenesis of Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular syndrome (CINCA).
- Publication
International archives of allergy and immunology, 2007, Vol 143, Issue 3, p190
- ISSN
1018-2438
- Publication type
Journal Article
- DOI
10.1159/000099311