Cryopyrin-Associated Periodic Syndromes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle-Wells syndrome (MWS), andneonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and articular syndrome or CINCA). They share many clinical features.

These syndromes are associated with mutations in NLRP3, the gene encoding cryopyrin. This is a component of the interleukin 1inflammasome, and mutations lead to unregulated production of interleukin 1β. Monoclonal antibodies against interleukin 1β (such as canakinumab), other interleukin 1 binding proteins (such as rilonacept), or interleukin 1 receptor antagonist (for example anakinra) can be used to treat these disorders.