Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure
Patients with idiopathic AA and MDS-h carried multiple germline immune-related gene variants that may increase susceptibility to immune-mediated BMF. Furthermore, patient T cells exhibited altered energy metabolism, which may represent a therapeutic target for modulating immune responses in autoimmune diseases.
Authors
- Tomáš Procházka (ORCID: https://orcid.org/0000-0002-4847-0875)
- Andrea Hruštincová (ORCID: https://orcid.org/0000-0002-3310-5824)
- Monika Kaisrlikova (ORCID: https://orcid.org/0000-0001-8840-7654)
- Jitka Veselá (ORCID: https://orcid.org/0000-0002-1585-6763)
- Iva Trsová (ORCID: https://orcid.org/0000-0002-6594-776X)
- Anna Jonášová (ORCID: https://orcid.org/0000-0003-0246-1524)
- Hana Votavová (ORCID: https://orcid.org/0000-0002-2990-579X)
- Šárka Ransdorfová
- Lucie Slámová
- Šárka Vaníková (ORCID: https://orcid.org/0000-0003-4011-5294)
- Monika Beličková (ORCID: https://orcid.org/0000-0002-9158-881X)
- Marketa Stastna Markova (ORCID: https://orcid.org/0000-0003-2206-5246)
- Martin Vostrý (ORCID: https://orcid.org/0000-0002-7557-2543)
- Daniel Lysák (ORCID: https://orcid.org/0000-0001-9391-4247)
- Barbora Pejsova
- Jaroslav Čermák (ORCID: https://orcid.org/0009-0006-0961-3294)
- Dávid Kundrát (ORCID: https://orcid.org/0000-0003-4770-1229)
- Zuzana Pinc
Institutions
- Charles University (CZ)
- Institute of Haematology and Blood Transfusion (CZ)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1007/s10875-025-01951-6
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Agentura Pro Zdravotnický Výzkum České Republiky