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 Kroniskt infantilt neurologiskt hud- och ledsyndrom Mucle-Wells syndrom Familjärt autoinflammatoriskt köldsyndrom Prieur – Griscellis syndrom

Engelska synonymer

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