CASE REPORT article
Front. Pediatr.
Sec. Pediatric Infectious Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1411603
A Heterozygous Mutation of NLRP3 in a Chinese Child with NLRP3-AID: A Case Report
Provisionally accepted
- Shanghai Children's Hospital, Shanghai, Shanghai Municipality, China
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Background: NLRP3-associated autoinflammatory disease (NLRP3-AID), formerly known as Cryopyrin-associated periodic syndrome (CAPS) is a group of autoinflammatory disease (AID) comprising neonatal-onset multisystem inflammatory disorder (NOMID), Muckle-Wells syndrome (MWS), and familial cold autoinflammatory syndrome (FCAS). Mutations in the NLR family pyrin domain containing 3 (NLRP3) gene are considered central to its pathogenesis. Case report: Here, we present a Chinese infant diagnosed with NLRP3-AID-severe carrying 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 de novo heterozygous mutation c.1006A>G (p.I336V) in the NLRP3 gene. Conclusion: We report an infant with NLRP3-AID and emphasize the importance of early diagnosis based on clinical manifestations.
Keywords: NLRP3-associated autoinflammatory disease (NLRP3-AID), neonatal-onset multisystem inflammatory disorder (NOMID), NLRP3 gene, Cryopyrin-associated periodic syndrome (CAPS), case report
Received: 03 Apr 2024; Accepted: 21 Jul 2025.
Copyright: © 2025 Ruan, Ge, Wang, Zhang and Song. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Feifei Song, Shanghai Children's Hospital, Shanghai, 200062, Shanghai Municipality, China
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