P02-021 - Atypical CAPS consequence of novel NLPR3 mutations

Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome the severest form. Overlapping phenotypes among these diseases have been also reported. Here we describe two different Spanish families with atypical presentation for CAPS. The initial NLRP3 screening, which only included the analysis of exon 3, was negative. However, the complete gene analysis revealed two novel missense mutations in exon 1 and 8, respectively.