Why study hereditary periodic-fever syndromes, which affectfewer than 500 patients worldwide? The discovery of cryopyrinprovides an answer. The story begins in 2001, when investigatorsshowed that mutations in the cold-induced autoinflammatory syndrome1 (CIAS1) gene, which encodes cryopyrin, causes two hereditaryperiodic-fever disorders: the MuckleWells syndrome andthe familial cold autoinflammatory syndrome.1 The followingyear, a third periodic-fever syndrome (also referred to as neonatal-onsetmultisystem inflammatory disease or the chronic infantile neurologic,cutaneous, articular syndrome) was found to be caused by mutantcryopyrin.2,3 Three articles recently published in Nature4,5,6now suggest that by discovering cryopyrin, the . . . [Full Text of this Article]
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From the Departments of Gastroenterology, Hepatology, and General Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
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