Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report
We identified a novel <i>SH2D1A</i> variant associated with fatal HLH in XLP1. Our findings highlight the importance of early genetic diagnosis before EBV exposure to improve patient outcomes. The potential role of co-infections, including SARS-CoV-2, in triggering HLH in XLP1 remains an area for further investigation.
Authors
- Алла Волоха (ORCID: https://orcid.org/0000-0003-3092-2228)
- Oksana Boyarchuk (ORCID: https://orcid.org/0000-0002-1234-0040)
- Jolán E. Walter (ORCID: https://orcid.org/0000-0002-6192-0703)
- Nataliia Yarema (ORCID: https://orcid.org/0000-0003-2458-8454)
- Halyna Makukh (ORCID: https://orcid.org/0000-0001-7749-5353)
- O.M. Dyvoniak
- Tetyana Tomashivska
- Ivanna Shymanska
Institutions
- West Ukrainian National University (UA)
- Shupyk National Healthcare University of Ukraine (UA)
- I.Horbachevsky Ternopil National Medical University (UA)
- Genetic Technologies (Australia) (AU)
- University of South Florida St. Petersburg (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-05-19
- DOI
- https://doi.org/10.3389/fimmu.2025.1602107
- Citations
- 3
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 5.31