Cryopyrin-associated periodic syndrome causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene.
Causes
Genetic Causes
- Cryopyrin-associated periodic syndrome is caused by a mutation in the NLRP3, also known as CIAS1, gene.[1][2][3]
References
- ↑ Hoffman, Hal M.; Mueller, James L.; Broide, David H.; Wanderer, Alan A.; Kolodner, Richard D. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome". Nature Genetics. 29 (3): 301–305. doi:10.1038/ng756. ISSN 1061-4036.
- ↑ Dodé, Catherine; Le Dû, Nathalie; Cuisset, Laurence; Letourneur, Frank; Berthelot, Jean-Marie; Vaudour, Gérard; Meyrier, Alain; Watts, Richard A; David Scott, G.I.; Nicholls, Anne; Granel, Brigitte; Frances, Camille; Garcier, François; Edery, Patrick; Boulinguez, Serge; Domergues, Jean-Paul; Delpech, Marc; Grateau, Gilles (2002). "New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes". The American Journal of Human Genetics. 70 (6): 1498–1506. doi:10.1086/340786. ISSN 0002-9297.
- ↑ Feldmann, Jérôme; Prieur, Anne-Marie; Quartier, Pierre; Berquin, Patrick; Certain, Stéphanie; Cortis, Elisabetta; Teillac-Hamel, Dominique; Fischer, Alain; Basile, Geneviève de Saint (2002). "Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes". The American Journal of Human Genetics. 71 (1): 198–203. doi:10.1086/341357. ISSN 0002-9297.