Neonatal-onset multisystem inflammatory disease caused by a <i>de novo NLRP3</i> gene mutation: a case report and literature review.

ABSTRACT:

Background

Neonatal-onset multisystem inflammatory disease (NOMID) is a rare autoinflammatory disease caused by NLRP3 mutations, leading to excessive interleukin-1β activation and potential irreversible organ damage.

Case description

We report a female neonate presenting at birth with urticaria-like rash, intermittent fever, aseptic meningitis, lymphadenopathy, and polyarthritis with persistently elevated inflammatory markers. Whole-exome sequencing revealed a heterozygous de novo NLRP3 mutation (c.2263G>A, p.Gly755Arg), confirmed as pathogenic. Conventional therapies, including antibiotics, corticosteroids, and antihistamines, failed to achieve symptom control. Canakinumab (2-3 mg/kg per 8 weeks) was initiated, leading to rapid resolution of fever, rash, and i

SUBMITTER: Zhao L 

PROVIDER: S-EPMC12757356 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature