Work

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

Year: 2025

Type: article

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 inflammatory markers, and successful induction of clinical and biochemical remission with canakinumab during the 13-month follow-up. Conclusion This case highlights the importance of early recognition of NOMID in neonates with antibiotic-unresponsive systemic inflammation. Early genetic confirmation and targeted IL-1 blockade with canakinumab are crucial to preventing devastating complications.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2025.1702819

Authors: Lingxia Zhao, Lingkong Zeng, Wenhao Yuan

Institutions: Wuhan Children's Hospital, Huazhong University of Science and Technology

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801