A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis
Our cohort included an extremely high rate of genetic testing and detection of FHL-related variants. <i>UNC13D</i> variations are associated with exceedingly poor outcomes. Response to initial treatment seems crucial for positive outcomes, as does access to hematopoietic stem cell transplantation. Overall, we report a high survival rate, possibly due to a high index of suspicion and prompt diagnosis.
Authors
- Galit Berger
- Orly Dgany
- Oded Gilad (ORCID: https://orcid.org/0000-0002-0033-3425)
- Jerry Stein (ORCID: https://orcid.org/0000-0001-6352-6956)
- Tamar Feuerstein
- Dan Harlev
- Noa Mandel‐Shorer (ORCID: https://orcid.org/0009-0001-3395-9037)
- Orna Steinberg‐Shemer (ORCID: https://orcid.org/0000-0002-1680-2388)
- Tanya Krasnov
- Yarden Greental Ness
- Asaf Yanir (ORCID: https://orcid.org/0000-0003-3713-104X)
- Assaf Arie Barg (ORCID: https://orcid.org/0000-0002-8329-8409)
- Sharon Noy‐Lotan (ORCID: https://orcid.org/0009-0001-0986-3641)
- Joanne Yacobovich (ORCID: https://orcid.org/0000-0003-3763-5694)
- Elad Jacoby (ORCID: https://orcid.org/0000-0003-1411-8942)
- Hannah Tamary (ORCID: https://orcid.org/0000-0003-4745-3448)
- Ehud Even‐Or (ORCID: https://orcid.org/0000-0002-4292-6376)
- Dafna Brik Simon (ORCID: https://orcid.org/0000-0002-5216-1135)
- Alison Kraus
Institutions
- Tel Aviv University (IL)
- Hebrew University of Jerusalem (IL)
- Hadassah Medical Center (IL)
- Rabin Medical Center (IL)
- Rambam Health Care Campus (IL)
- Schneider Children's Medical Center (IL)
- Rappaport Family Institute for Research in the Medical Sciences (IL)
- Augusta Victoria Hospital (IL)
- Geha Mental Health Center (IL)
- Edmond and Lily Safra Children's Hospital (IL)
Publication Details
- Journal
- Genes
- Published
- 2025-11-02
- DOI
- https://doi.org/10.3390/genes16111315
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00