Cryopyrin-associated periodic syndrome

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), and neonatal-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 1 inflammasome, 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.

References

• Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics. Mod Rheumatol. 2010 Jun;20(3):213-21
• Autoinflammatory Alliance CAPS Guidebook