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CIAS1Cold-Induced Autoinflammatory Syndrome 1
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While the mechanism of NOMID is not completely understood, research in recent years has revealed mutations in a gene called CIAS1 in about 60% of patients with the disease.
For instance, the CIAS1 gene in the pyrin domain is responsible for three different conditions: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA).
CAPS is caused by a range of mutations in the gene CIAS1 (also known as NALP3) that encodes a protein named cryopyrin.
Associate Professor of Pediatrics and Medicine, Division of Rheumatology, Allergy, and Immunology at the University of California at San Diego School of Medicine, who with his colleagues discovered the CIAS1 gene and its causal relationship to CAPS.