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

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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Main Authors: Jiao Xue, Zhenfeng Song, Hongshan Zhao, Chengqing Yang, Fei Li, Zhi Yi, Kaixuan Liu, Ying Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
central nervous system
hemophagocytic lympho-histiocytosis
PRF1 gene
uniparental disomy
pediatric
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1528844/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1528844/full

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