Article
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
Arthritis and rheumatism - 1 Dec 2002
Aksentijevich Ivona, Nowak Miroslawa, Mallah Mustapha, Chae Jae Jin, Watford Wendy T, Hofmann Sigrun R, Stein Leonard, Russo Ricardo, Goldsmith Donald, Dent Peter, Rosenberg Helene F, Austin Frances, Remmers Elaine F, Balow James E, Rosenzweig Sergio, Komarow Hirsh, Shoham Nitza G, Wood Geryl, Jones Janet, Mangra Nadira, Carrero Hector, Adams Barbara S, Moore Terry L, Schikler Kenneth, Hoffman Hal, Lovell Daniel J, Lipnick Robert, Barron Karyl, O'Shea John J, Kastner Daniel L, Goldbach-Mansky Raphaela
Abstract excerpt
OBJECTIVE: Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy. We investigated whether patients with this disorder have mutations in CIAS1, the gene which causes Muckle-Wells...
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