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Browse result for Cryopyrin associated periodic syndrome

※ introduction

    Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1¦Â-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle¨CWells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA) that were originally thought to be distinct entities, but in fact share a single genetic mutation and pathogenic pathway, and keratoendotheliitis fugax hereditaria in which the autoinflammatory symptoms affect only the anterior segment of the eye.

Reference
Wiki: Cryopyrin associated periodic syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01863Q96P2011454
NLRP3
NACHT, LRR and PYD domains-containing protein 3
Homo sapiens