M158 URTICARIAL RASH IN A NEWBORN: A SUSPECTED NOVEL MUTATION IN NLRP3

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a rare disorder characterized by episodes of systemic inflammation, which most commonly presents with fever, rash, arthralgias and conjunctivitis. It consists of three phenotypes of varying severities: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). Patients with NOMID have the most severe phenotype, which can involve the central nervous, ophthalmic, audiological, and skeletal systems. Most patients have either dominantly inherited or de novo gain-of-function mutations in the NLRP3 gene.