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Article

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Journal of clinical immunology - 5 Nov 2025

Pinc Zuzana, Kundrat David, Kaisrlikova Monika, Hrustincova Andrea, Vanikova Sarka, Trsova Iva, Vesela Jitka, Vostry Martin, Pejsova Barbora, Ransdorfova Sarka, Slamova Lucie, Prochazka Tomas, Lysak Daniel, Jonasova Anna, Markova Marketa Stastna, Cermak Jaroslav, Belickova Monika, Votavova Hana

Abstract excerpt

PURPOSE: Bone marrow failure (BMF) in idiopathic aplastic anemia (AA) and hypoplastic myelodysplastic neoplasms (MDS-h) results from the destruction of hematopoietic progenitors by autoreactive T cells; however, the molecular events driving the pathogenesis of these disorders remain unclear. We therefore applied whole-exome sequencing (WES) in AA and MDS-h patients to identify acquired and inherited gene variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41188636
DOI: 10.1007/s10875-025-01951-6
PMCID: PMC12586405

Genes

BMF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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