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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…

Overview of attention for article published in Arthritis & Rheumatism, December 2002
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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
Published in
Arthritis & Rheumatism, December 2002
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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Mendeley readers

The data shown below were compiled from readership statistics for 166 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 1%
Spain 1 <1%
Brazil 1 <1%
Unknown 162 98%

Demographic breakdown

Readers by professional status Count As %
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 %
Medicine and Dentistry 60 36%
Agricultural and Biological Sciences 30 18%
Biochemistry, Genetics and Molecular Biology 14 8%
Immunology and Microbiology 14 8%
Chemistry 4 2%
Other 13 8%
Unknown 31 19%