NLRP3 (Cryopyrin) belongs to the NLRP family and it contains one DAPIN domain, seven LRR (leucine-rich) repeats and one NATCH domain. NLR proteins play a variety of roles during the innate immune response including pathogen sensing, transcriptional activation of proinflammatory cytokines through NF-κB, transcriptional activation of type I interferons through IRFs, and formation of inflammasomes leading to activation of inflammatory caspases. Mutations in Cryopyrin and Pyrin proteins are responsible for several autoinflammatory disorders in humans, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous and articular syndrome (CINCA).
