Cryopyrin associated periodic syndrome
Definition:
References:
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[1]. Bénédicte Neven, et al. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008 Sep;4(9):481-9. [Content Brief]
[2]. Bénédicte Neven, 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 Apr 1;103(7):2809-15. [Content Brief]
[3]. H M Hoffman, et al. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001 Oct;108(4):615-20. [Content Brief]
[4]. H M Hoffman, 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 Nov;29(3):301-5. [Content Brief]
[5]. Ivona Aksentijevich, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002 Dec;46(12):3340-8. [Content Brief]
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