Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings
This study highlights novel germline variants potentially associated with L-HES pathogenesis and expands the genomic spectrum beyond previously implicated somatic mutations. Our findings support the role of immune dysregulation and genetic predisposition in L-HES and underscore the importance of broader genomic profiling in familial cases. Functional validation and long-term monitoring are essential for risk stratification and early detection of malignant transformation.
Authors
- X. Long Zheng
- Wei Cui (ORCID: https://orcid.org/0000-0002-8177-0538)
- Manoj Kumar (ORCID: https://orcid.org/0000-0001-6087-4306)
- Molly Walkenhorst
- Da Zhang (ORCID: https://orcid.org/0000-0002-6574-0910)
- Malay Kumar Basu (ORCID: https://orcid.org/0000-0002-8008-4042)
- Anusha Vallurupalli (ORCID: https://orcid.org/0000-0002-5003-807X)
- Andrea Sitek (ORCID: https://orcid.org/0000-0001-5607-2407)
- Xinyang Zhao
Institutions
- Emory University (US)
- University of Kansas Medical Center (US)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-12-18
- DOI
- https://doi.org/10.3389/fmed.2025.1679484
- Primary Topic
- Eosinophilic Disorders and Syndromes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Heart, Lung, and Blood Institute