Cryopyrin-associated periodic syndromes

**Definition:** CAPS is an autoinflammatory disease associated with gain of function changes in the cryopyrin protein, resulting in inflammasome activation and enhanced IL1 beta production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint and eye symptoms with increased acute phase reactants.

**Long definition:** CAPS is a “disease” with clear symptomatology, clear linkage to a gene as etiology, with a defined course and treatment. CAPS is a autosomal dominantly inherited autoinflammatory disease associated with heterozygous mutations in a gene called NLRP3 (Nucleotide binding site Leucine rich Repeat Pyrin 3) which codes for the cyropyrin protein [ ], leading to excess interleukin 1beta (IL-1beta) production [ ].

**Inclusions:** - Cryopyrinopathies