A fever gene comes in from the cold

DL Kastner, JJ O'Shea - Nature Genetics, 2001 - nature.com
Nature Genetics, 2001nature.com
The pyrin domain was first noted in the familial Mediterranean fever protein from which it
takes its name. It belongs to a structural superfamily that includes death domains, death
effector domains and caspase activation and recruitment domains. Several genes
underlying autoinflammatory diseases have at least one of these four death domain–fold
motifs. Mutations in CIAS1, encoding cryopyrin, a leukocyte-specific member of this growing
superfamily, have now been shown to cause both familial cold autoinflammatory syndrome …
The pyrin domain was first noted in the familial Mediterranean fever protein from which it takes its name. It belongs to a structural superfamily that includes death domains, death effector domains and caspase activation and recruitment domains. Several genes underlying autoinflammatory diseases have at least one of these four death domain–fold motifs. Mutations in CIAS1, encoding cryopyrin, a leukocyte-specific member of this growing superfamily, have now been shown to cause both familial cold autoinflammatory syndrome and Muckle-Wells syndrome. These new findings add to the growing body of evidence that the dysregulation of leukocyte apoptosis may be a common molecular pathway leading to inflammatory disease.
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