TY - JOUR T1 - Cryopyrin-associated autoinflammatory syndrome: a new mutation JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - 843 LP - 844 DO - 10.1136/ard.2006.064899 VL - 66 IS - 6 AU - Andrew Zeft AU - John F Bohnsack Y1 - 2007/06/01 UR - http://ard.bmj.com/content/66/6/843.abstract N2 - 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 39°C … ER -