Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation

BackgroundCentral nervous system-isolated hemophagocytic lymphohistiocytosis (CNS-HLH) is a rare disease caused by mutations in several genes.MethodsClinical information was obtained from medical records. Genetic analyses were performed using whole-exome sequencing (WES). NK cell function testing, G...

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Hauptverfasser:	Jiao Xue, Zhenfeng Song, Hongshan Zhao, Chengqing Yang, Fei Li, Zhi Yi, Kaixuan Liu, Ying Zhang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2025-07-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	central nervous system hemophagocytic lympho-histiocytosis PRF1 gene uniparental disomy pediatric
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1528844/full
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