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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
Author(s) -
Boschan C.,
Witt O.,
Lohse P.,
Foeldvari I.,
Zappel H.,
Schweigerer L.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31148
Subject(s) - anakinra , interleukin 1 receptor antagonist , medicine , immunology , inflammation , nalp3 , receptor antagonist , disease , receptor , antagonist , inflammasome
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.