PW02-031 - Genetic and clinical manifestations of CAPS

Excerpt

Many variants in the NLRP3 gene are associated with a particular spectrum of autoinflammatory diseases or hereditary recurrent fevers (HRFs), including familial cold autoinflammatory syndrome (FCAS), Muckle Wells Syndrome (MWS), and chronic infantile neurologic, cutaneous and articular syndrome (CINCA), also known as neonatal onset multisystem inflammatory disease (NOMID). These are now subsumed under the umbrella term CAPS (cryopyrin-associated periodic syndromes). However, CAPS is rarely encountered in any population and is often difficult to identify. Extension of genetic screening to a genomic scale may soon become routine, but that development will require definition of the identities and ontology of the constellations of symptoms involved, in order for bioinformatics applications to keep pace. Patients with clinical features suggestive of these conditions were analysed for NLRP3 variants. …