Altered cryopyrin brings fever and chills

Wells syndromes.

Tudor Toma(

Patients with familial cold autoinflammatory syndrome (FCAS) suffer fever, urticaria and other conjunctivitis when exposed to cold air. Those with Muckle-Wells syndrome (MWS) frequently have sensorineural hearing loss and also suffer periodic fevers, but these bouts are unrelated to cold exposure. In 22 October on-line Nature Genetics Hal Hoffman and colleagues from University of California School of Medicine, San Diego identify a gene encoding an immune system protein implicated in these two rare disorders.

Hoffman et al. screened exons in a 10 cM region of chromosome 1q44 — to which FCAS and MWS have previously been mapped — for mutations using DNA from affected individuals and controls. They found four distinct mutations in a gene (called CIAS1) that segregated with the disorder. CIAS1 is expressed in peripheral blood leukocytes and encodes a newly found protein, named cryopyrin, with a structure that suggest a role in the regulation of inflammation...

Interested in reading more?

Become a Member of

Receive full access to more than 35 years of archives, as well as TS Digest, digital editions of The Scientist, feature stories, and much more!
Already a member?