PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants

Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases. The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases.