Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.

Yangming Ruan, Ting Ge, Yizhong Wang, Ting Zhang, Feifei Song

Abstract readCase Reports

In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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3 · Its place in the literature

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1 citing paper in PubMed.

Neonatal-onset multisystem inflammatory disease caused by aFrontiers in pediatrics · 2025
Article

4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Yangming RuanDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Ting GeDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Yizhong WangDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Ting ZhangDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Feifei SongDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: NLR family pyrin domain containing 3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID), formerly known as cryopyrin-associated periodic syndrome, is a group of AIDs comprising neonatal-onset multisystem inflammatory disorder, Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Mutations in the NLRP3 gene are considered central to its pathogenesis. Case report: Here, we present a Chinese infant diagnosed with severe NLRP3-AID who carried a heterozygous variant in the NLRP3 gene. The patient exhibited recurrent episodes of fever, urticaria-like rashes, aseptic meningitis, and hearing loss. During hospitalization, elevated inflammatory markers and leukocytosis in body fluids were observed without evidence of infection. DNA sequencing identified a Conclusion: We report an infant with NLRP3-AID and emphasize the importance of early diagnosis based on clinical manifestations.

Indexed as

case reportcryopyrin-associated periodic syndrome (CAPS)neonatal-onset multisystem inflammatory disorder (NOMID)NLRP3-associated autoinflammatory disease (NLRP3-AID)NLRP3 gene

Identifiers

PMID40852416

DOI10.3389/fped.2025.1411603

PMCPMC12369556

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