Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation
We report a highly unusual case of CNS-HLH diagnosed by uniparental disomy of a <i>PRF1</i> mutation. Exome sequencing should be considered in patients with chronic or recurrent brain inflammation who show partial or no response to conventional treatment regimens.
Authors
- Zhenfeng Song (ORCID: https://orcid.org/0000-0002-7652-4893)
- Fei Ran Li (ORCID: https://orcid.org/0000-0002-2455-4986)
- Yiqiang Zhang (ORCID: https://orcid.org/0000-0003-0691-6645)
- Jiao Xue (ORCID: https://orcid.org/0000-0001-6730-7013)
- Kaixuan Liu (ORCID: https://orcid.org/0000-0001-7506-4285)
- Zhi Yi (ORCID: https://orcid.org/0000-0002-8924-6335)
- Chengqing Yang
- Hongshan Zhao
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-07-21
- DOI
- https://doi.org/10.3389/fgene.2025.1528844
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00