Title |
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
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Published in |
Arthritis & Rheumatism, December 2002
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DOI | 10.1002/art.10688 |
Pubmed ID | |
Authors |
Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah, Jae Jin Chae, Wendy T. Watford, Sigrun R. Hofmann, Leonard Stein, Ricardo Russo, Donald Goldsmith, Peter Dent, Helene F. Rosenberg, Frances Austin, Elaine F. Remmers, James E. Balow, Sergio Rosenzweig, Hirsh Komarow, Nitza G. Shoham, Geryl Wood, Janet Jones, Nadira Mangra, Hector Carrero, Barbara S. Adams, Terry L. Moore, Kenneth Schikler, Hal Hoffman, Daniel J. Lovell, Robert Lipnick, Karyl Barron, John J. O'Shea, Daniel L. Kastner, Raphaela Goldbach‐Mansky |
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. |
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Geographical breakdown
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Spain | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 162 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 26 | 16% |
Researcher | 25 | 15% |
Student > Ph. D. Student | 21 | 13% |
Student > Postgraduate | 14 | 8% |
Other | 13 | 8% |
Other | 42 | 25% |
Unknown | 25 | 15% |
Readers by discipline | Count | As % |
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Chemistry | 4 | 2% |
Other | 13 | 8% |
Unknown | 31 | 19% |