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.

@article{Aksentijevich2002DeNC,
  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.},
  author={I. Aksentijevich and Miroslawa Nowak and Mustapha Mallah and J. Chae and W. Watford and S. Hofmann and L. Stein and R. Russo and D. Goldsmith and P. Dent and H. Rosenberg and Frances Austin and E. Remmers and J. Balow and S. Rosenzweig and H. Komarow and N. Shoham and G. Wood and Janet Jones and Nadira Mangra and H. Carrero and B. Adams and T. Moore and K. Schikler and H. Hoffman and D. Lovell and R. Lipnick and K. Barron and J. O’Shea and D. Kastner and R. Goldbach-Mansky},
  journal={Arthritis and rheumatism},
  year={2002},
  volume={46 12},
  pages={
          3340-8
        }
}
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 syndrome and familial cold autoinflammatory syndrome, two dominantly inherited disorders… Expand

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