Add to ORKGCryopyrin-associated periodic syndrome are three clinical forms of a rare autoinflammatory disorder from familial cold urticaria, the mild form, to the most severe form called chronic infantile neurological cutaneous and articular syndrome (CINCA), throught Muckle-Wells syndrome (MWS), the intermediate phenotype. Sensorineural hearing loss and renal amyloidosis can occur during the evolution. CAPS are due to gain-of-function mutations of NLRP3 gene, predominantly germline mutations. This results in an excessive activation of NLRP3 inflammasome and interleukin 1β processing leading to biological and clinical manifestations. These germline mutations are detectable with Sanger sequencing method. Sometimes, classically severe phenotypes of MWS ...