Article
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
The New England journal of medicine - 4 Jun 2009
Aksentijevich Ivona, Masters Seth L, Ferguson Polly J, Dancey Paul, Frenkel Joost, van Royen-Kerkhoff Annet, Laxer Ron, Tedgård Ulf, Cowen Edward W, Pham Tuyet-Hang, Booty Matthew, Estes Jacob D, Sandler Netanya G, Plass Nicole, Stone Deborah L, Turner Maria L, Hill Suvimol, Butman John A, Schneider Rayfel, Babyn Paul, El-Shanti Hatem I, Pope Elena, Barron Karyl, Bing Xinyu, Laurence Arian, Lee Chyi-Chia R, Chapelle Dawn, Clarke Gillian I, Ohson Kamal, Nicholson Marc, Gadina Massimo, Yang Barbara, Korman Benjamin D, Gregersen Peter K, van Hagen P Martin, Hak A Elisabeth, Huizing Marjan, Rahman Proton, Douek Daniel C, Remmers Elaine F, Kastner Daniel L, Goldbach-Mansky Raphaela
Abstract excerpt
BACKGROUND: Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone. METHODS: We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis,...
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