Frontiers in pediatrics · 2025
Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.
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Ruan Yangming, Ge Ting, Wang Yizhong, Zhang Ting, Song Feifei
Аннотация
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 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.
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 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.