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Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment


  • H. Zappel and L. Schweigerer have contributed equally to the manuscript.


Neonatal-onset multisystem inflammatory disease (NOMID) is due to mutations in the CIAS1 gene. We describe the case of a 5-year-old boy with neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, hepatosplenomegaly, and chronic CNS inflammation associated with sensorineural deafness. Sequence analysis of exon 3 of the CIAS1 gene revealed a novel C1754A/S331R mutation. Since experimental evidence suggests that patients with cryopyrin-associated periodic syndromes (CAPS) could respond to inhibition of binding of interleukin IL-1α and IL-1β to the IL-1 receptor type 1, we treated the child with the IL-1 receptor antagonist anakinra. A remarkable clinical and serological response to therapy was observed, suggesting that pharmacological inhibition of the IL-1 signaling pathway offers an important new treatment option for patients with NOMID. © 2006 Wiley-Liss, Inc.

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