Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.
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.
Abt. Pädiatrie I, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Göttingen, Germany. carolin.boschan@med.uni-goettingen.de
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Boschan
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Witt
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Lohse
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Foeldvari
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Zappel
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Schweigerer
D019943:Amino Acid Substitution / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005334:Fever / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007249:Inflammation / Q000188:drug therapy / Q000235:genetics; D053590:Interleukin 1 Receptor Antagonist Protein / Q000494:pharmacology*; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors*; D014581:Urticaria / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D017472:Receptors, Interleukin-1