A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.
推出的年份: 2010
副标题
树号: C16.320.382.500, C17.800.827.368.500
MeSH 单一 ID: D056587
进入的组:
Cryopyrin Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndrome
Cryopyrinopathy
Cryopyrinopathies
Cryopyrin Associated Periodic Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
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