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

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.

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Publication Details

Journal
Frontiers in Pediatrics
Published
2025-12-19
DOI
https://doi.org/10.3389/fped.2025.1702819
Primary Topic
Inflammasome and immune disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Wenhao Yuan, Lingxia Zhao, Lingkong Zeng
Frontiers in Pediatrics
Inflammasome and immune disorders
article

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

Wenhao Yuan, Lingxia Zhao, Lingkong Zeng
article en

Abstract

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.

Frontiers in PediatricsVol. 13
Wuhan Children's Hospital (CN), Huazhong University of Science and Technology (CN)
Openalex Percentile: Top 63%
Inflammasome and immune disorders
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Neonatal-onset multisystem inflammatory disease caused by a de novo NLRP3 gene mutation: a case report and literature review — Wenhao Yuan, Lingxia Zhao, et al. · Frontiers in Pediatrics (2025) | TGRS Research Map | TGRS