Ontology highlight
ABSTRACT:
SUBMITTER: Yu JR
PROVIDER: S-EPMC3020304 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Yu Justin R JR Leslie Kieron S KS
Current allergy and asthma reports 20110201 1
Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as in ...[more]