De novoCIAS1 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
Donald Goldsmith, Hal M. Hoffman, John J. O’Shea, Sergio D. Rosenzweig, Ivona Aksentijevich, Janet Jones, Karyl S. Barron, Geryl Wood, Helene F. Rosenberg, Ricardo Russo, Robert Lipnick, James E. Balow, Hirsh D. Komarow, Peter B. Dent, Elaine F. Remmers, Sigrun R. Hofmann, Miroslawa Nowak, Frances Austin, Raphaela Goldbach‐Mansky, Mustapha Mallah, Nitza G. Shoham, Terry L. Moore, Nadira Mangra, Wendy T. Watford, Daniel J. Lovell, Kenneth N. Schikler, Barbara S. Adams, Hector Carrero, Daniel L. Kastner, Leonard I. Stein, Jae Jin Chae
Abstract
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 syndrome and familial cold autoinflammatory syndrome, two dominantly inherited disorders with some similarities to NOMID/CINCA syndrome.