Article
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.
The New England journal of medicine - 10 Aug 2006
Goldbach-Mansky Raphaela, Dailey Natalie J, Canna Scott W, Gelabert Ana, Jones Janet, Rubin Benjamin I, Kim H Jeffrey, Brewer Carmen, Zalewski Christopher, Wiggs Edythe, Hill Suvimol, Turner Maria L, Karp Barbara I, Aksentijevich Ivona, Pucino Frank, Penzak Scott R, Haverkamp Margje H, Stein Leonard, Adams Barbara S, Moore Terry L, Fuhlbrigge Robert C, Shaham Bracha, Jarvis James N, O'Neil Kathleen, Vehe Richard K, Beitz Laurie O, Gardner Gregory, Hannan William P, Warren Robert W, Horn William, Cole Joe L, Paul Scott M, Hawkins Philip N, Pham Tuyet Hang, Snyder Christopher, Wesley Robert A, Hoffmann Steven C, Holland Steven M, Butman John A, Kastner Daniel L
Abstract excerpt
BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory...
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