Cryopyrin-Associated Periodic Syndromes

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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.

Synonyms: Syndromes, Prieur-Griscelli, Multisystem Inflammatory Disease, Neonatal-Onset, Familial Cold-Induced Autoinflammatory Syndrome, Cryopyrinopathies, Familial Cold Urticaria, Urticarias, Familial Cold, Urticaria, Deafness and Amyloidosis, Cold Induced Autoinflammatory Syndrome, Familial, Familial Cold Autoinflammatory Syndrome 1, Chronic Neurologic Cutaneous and Articular Syndrome, Muckle-Wells Syndrome, Syndrome, Urticaria-Deafness-Amyloidosis, FCAS1, Syndrome, Prieur-Griscelli, Cold-Induced Autoinflammatory Syndrome, Familial, Cryopyrinopathy, Chronic Neurologic, Cutaneous, and Articular Syndrome, Urticaria-Deafness-Amyloidosis Syndromes, Cryopyrin Associated Periodic Syndromes, Cryopyrin-Associated Periodic Syndrome, UDA Syndromes, Chronic Infantile Neurological, Cutaneous, and Articular Syndrome, Syndrome, Muckle-Wells, UDA Syndrome, Syndrome, UDA, Urticaria Deafness Amyloidosis Syndrome, NOMID, Urticaria, Familial Cold, IOMID Syndromes, Infantile Onset Multisystem Inflammatory Disease, Syndromes, UDA, Syndromes, Urticaria-Deafness-Amyloidosis, IOMID Syndrome, Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome, Syndromes, IOMID, Prieur-Griscelli Syndromes, Prieur-Griscelli Syndrome, CINCA, Urticaria-Deafness-Amyloidosis Syndrome, Prieur Griscelli Syndrome, Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome, Muckle Wells Syndrome, Cold Urticarias, Familial, IOMID, Cold Urticaria, Familial, Familial Cold Autoinflammatory Syndrome, Syndrome, IOMID, Familial Cold Urticarias, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Induced Autoinflammatory Syndrome, Multisystem Inflammatory Disease, Neonatal Onset, Cryopyrin-Associated Periodic Syndromes, CINCA Syndrome

Instance information

comment

2010; see Cryopyrin-associated Periodic Syndromes, 2010 ,2010; use Cryopyrin-associated Periodic Syndromes, 2010

identifier

D056587