Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in NLRP3 in a previously healthy middle-aged woman
BackgroundCryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the NLRP3 gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of…