TY - JOUR T1 - CIAS1 and NOD2 Genes in Adult-onset Still’s Disease JF - The Journal of Rheumatology JO - J Rheumatol SP - 1566 LP - 1567 DO - 10.3899/jrheum.131563 VL - 41 IS - 7 AU - EMMA GARCIA-MELCHOR AU - DOLORS GRADOS AU - EVA GONZÁLEZ-ROCA AU - JUAN I. AROSTEGUI AU - JORDI YAGUE AU - FRANCISCO JAVIER NARVÁEZ AU - ALEJANDRO OLIVE Y1 - 2014/07/01 UR - http://www.jrheum.org/content/41/7/1566.abstract N2 - To the Editor:We read with interest the article by Eriksson, et al1 presenting a patient diagnosed with adult-onset Still’s disease (AOSD) and successfully treated with interleukin-1β (IL-1β) blockade, in whom the heterozygous germline p.R260W NLRP3 mutation was finally detected. AOSD is a systemic inflammatory disease characterized by fever, rash, articular involvement, lymphadenopathy, hepatosplenomegaly, and serositis2. Its cause remains unknown, but it is now considered an autoinflammatory disease on the basis of the absence of autoantibodies or autoantigen-specific T cells and the central role of IL-1β in its pathogenesis3,4.AOSD differential diagnosis should include the group of hereditary autoinflammatory diseases, especially the dominantly inherited cryopyrin-associated periodic syndromes (CAPS) and Blau syndrome (BS). The CAPS syndromes are caused by heterozygous gain-of-function mutations … Address correspondence to Dr. Garcia-Melchor. E-mail: emmitagm{at}gmail.com ER -