Cryopyrin-Associated Periodic Syndromes

Kryopyrinassocierade periodiska syndrom

Engelsk definition

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.

Svenska synonymer

CINCA-syndrom

Engelska synonymer

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