Gain-of-functions mutations in NLRP3 gene are causative of cryopyrin associated periodic syndrome (CAPS), an inherited autoinflammatory disorder encompassing a continuum of three phenotypes, but new evidence have shown the causative role of NLRP3 in other autoinflammatory syndromes, such as deafness autosomal dominant 34 and keratitis fugax hereditaria, thus expanding the clinical and genetic spectrum of NLRP3-associated autoinflammatory diseases. Here, NLRP3 is linked to cryopyrin-associated periodic syndrome.