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 Syndromes — Cryopyrin-Associated Periodic Syndrome — 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 — 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 — CINCA Syndrome — IOMID — Muckle-Wells Syndrome — Muckle Wells Syndrome — Syndrome, Muckle-Wells — Urticaria, Deafness and Amyloidosis — UDA Syndrome — Syndrome, UDA — UDA Syndromes — Urticaria-Deafness-Amyloidosis Syndrome — Syndrome, 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 — Familial Cold Urticarias — Urticaria, Familial Cold — Cold-Induced Autoinflammatory Syndrome, Familial — Cold Induced Autoinflammatory Syndrome, Familial — Familial Cold Autoinflammatory Syndrome 1 — FCAS1