Cryopyrin associated periodic syndrome

Definition:

Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes. The pathogenic mechanism of these syndromes is attributed to increased activation of the NLRP3 inflammasome, resulting in aberrantly high production of IL-1beta.

References:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.