ReviewHaematologica2024
Germline variants in acquired aplastic anemia: current knowledge and future perspectives.
Review in Haematologica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Cord blood transfusion added matched unrelated donor transplantation as a preferable choice for aplastic anaemia: a comparative study from a single centre.Annals of medicine · 2026Article
- The Role of Single-Nucleotide Polymorphisms in Acquired Aplastic Anaemia.Scandinavian journal of immunology · 2026Review
- Molecular and therapeutic frontiers in anemia therapy.The Journal of clinical investigation · 2026Review
- GATA2 deficiency exacerbates chronic liver injuryWorld journal of stem cells · 2026Article
- Guilu Erxian Glue Restores Immune Homeostasis in Aplastic Anemia Mice by Regulating Treg Lineage Stability via the miRNA-17/10a and FasL/Fas Signaling Pathways.Journal of inflammation research · 2026Article
- Linking HLA class II susceptibility to HSPC transcriptomics and antigen presentation in aplastic anemia.Frontiers in immunology · 2026Article
- Neonatal lupus erythematosus: an acquired autoimmune disease to be taken seriously.Annals of medicine · 2025Review
- Clinical characteristic of isolated thrombocytopenia in patients with bone marrow failure-related germline variants: a retrospective study from a single centre.Annals of medicine · 2025Article
- Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.Journal of clinical immunology · 2025Article
- Hematopoietic stem cell transplantation outcomes in pediatric acquired aplastic anemia with inherited bone marrow failure syndrome-associated genes.Bone marrow transplantation · 2025Article
- Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aplastic anemia (AA) is a disease characterized by failure of hematopoiesis, bone marrow aplasia, and pancytopenia. It can be inherited or acquired. Although acquired AA is believed to be immune-mediated and random, new evidence suggests an underlying genetic predisposition. Besides confirmed genomic mutations that contribute to inherited AA (such as pathogenic mutations of TERT and TERC), germline variants, often in heterozygous states, also play a not negligible role in the onset and progression of acquired AA. These variants, associated with inherited bone marrow failure syndromes and inborn errors of immunity, contribute to the disease, possibly through mechanisms including gene homeostasis, DNA repair, and immune injury. This article explores the nuanced association between acquired AA and germline variants, detailing the clinical significance of germline variants in diagnosing and managing this condition. More work is encouraged to better understand the role of immunogenic pathogenic variants and whether somatic mutations participate as secondary "hits" in the development of bone marrow failure.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.