cryopyrin-associated periodic syndrome

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cryopyrin-associated periodic syndrome2016-11-25T13:16:26+00:00

cryopyrin-associated periodic syndrome 

IMMUNOLOGY

Any of a spectrum of hereditary CIAS1* gene-mediated autoinflammatory disorders characterised by IL-1-mediated recurrent systemic inflammation.

*NLRP3 is the symbol preferred by the HUGO; it encodes cryopyrin, a component of the IL-1 inflammasome. NLRP3 mutations lead to unregulated production of interleukin 1β

Clinical findings CAPS include a range of clinical entities including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease–NOMID.

References Otolaryngol Head Neck Surg. 2011 Aug;145(2):295-302.

doi: 10.1177/0194599811402296

https://en.wikipedia.org/wiki/Cryopyrin-associated_periodic_syndrome

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