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Cryopyrin-associated autoinflammatory syndrome: a new mutation
  1. Andrew Zeft,
  2. John F Bohnsack
  1. Division of Immunology and Rheumatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
  1. Correspondence to:
    Dr A Zeft
    Division of Immunology and Rheumatology, Department of Pediatrics University of Utah, 30 North 1900 East, #2A134 SOM, Salt Lake City, UT 84132, USA; andrew.zeft{at}hsc.utah.edu

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Patients with mutations in the gene for cold-induced autoinflammatory syndrome (CIAS1; cryopyrin) have a wide range of disease phenotypes including the familial cold autoinflammatory syndrome, Muckle–Wells syndrome and chronic infantile neurologic cutaneous articular syndrome. We recently identified a new mutation in CIAS1 in a 10-year-old boy who had lifelong inflammatory episodes characterised by non-pruritic urticaria, fevers and articular symptoms. His mother had similar symptoms but no other family member could be identified with similar clinical features. The boy’s urticarial lesions typically occurred with exposure to cold temperatures. Skin biopsy showed mixed perivascular inflammatory cells in the superficial dermis suggestive of an early-phase urticarial response. His spiking fevers to …

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