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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.

Abstract
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-1alpha and IL-1beta 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.
AuthorsC Boschan, O Witt, P Lohse, I Foeldvari, H Zappel, L Schweigerer
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 8 Pg. 883-6 (Apr 15 2006) ISSN: 1552-4825 [Print] United States
PMID16532456 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 2006 Wiley-Liss, Inc.
Chemical References
  • Carrier Proteins
  • Interleukin 1 Receptor Antagonist Protein
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Receptors, Interleukin-1
Topics
  • Amino Acid Substitution (genetics)
  • Carrier Proteins (genetics)
  • Child, Preschool
  • Fever (diagnosis, drug therapy, genetics, pathology)
  • Humans
  • Infant, Newborn
  • Inflammation (drug therapy, genetics)
  • Interleukin 1 Receptor Antagonist Protein (pharmacology)
  • Male
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Receptors, Interleukin-1 (antagonists & inhibitors)
  • Urticaria (diagnosis, drug therapy, genetics, pathology)

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