ArticleHaematologica2021
A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia.
Article in Haematologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- HLA associations, somatic loss of HLA expression, and clinical outcomes in immune aplastic anemia.Blood · 2021Trial
- High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.Nature genetics · 2026Article
- Clonal expansion mechanisms in paroxysmal nocturnal hemoglobinuria.International journal of hematology · 2026Review
- Case report: Spontaneous remission of severe aplastic anemia mediated by mutant hematopoietic stem cells evading T-cell attack.Frontiers in immunology · 2025Article
- Recurrent disease after a matched sibling hematopoietic transplant in an aplastic anemia patient with a disease risk allele, HLA-B*40:02.Blood transfusion = Trasfusione del sangue · 2024Article
- Acquired Aplastic Anemia Therapies: Immunosuppressive Therapy Versus Alternative Donor Hematopoietic Cell Transplantation.Journal of hematology · 2024Review
- Comparison of human leukocyte antigen in patients with paroxysmal nocturnal hemoglobinuria of different clone sizes.Annals of hematology · 2024Article
- Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.JCI insight · 2022Article
- Article
- Frequent HLA-DR loss on hematopoietic stem progenitor cells in patients with cyclosporine-dependent aplastic anemia carrying HLA-DR15.Leukemia · 2022Article
- Article
- Article
- Clonal evolution in aplastic anemia: failed tumor surveillance or maladaptive recovery?Leukemia & lymphomaReview
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Authors and funding
20 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leukocytes that lack HLA allelic expression are frequently detected in patients with acquired aplastic anemia (AA) who respond to immunosuppressive therapy (IST), although the exact mechanisms underlying the HLA loss and HLA allele repertoire likely to acquire loss-of-function mutations are unknown. We identified a common nonsense mutation at position 19 (c.19C>T, p.R7X) in exon 1 (Exon1mut) of different HLA-A and -B alleles in HLA-lacking granulocytes from AA patients. A droplet digital PCR (ddPCR) assay capable of detecting as few as 0.07% Exon1mut HLA alleles in total DNA revealed the mutation was present in 29% (101/353) of AA patients, with a median allele frequency of 0.42% (range, 0.071% to 21.3%). Exon1mut occurred in only 12 different HLA-A (n=4) and HLA-B (n=8) alleles, including B*40:02 (n=31) and A*02:06 (n=15), which correspond to 4 HLA supertypes (A02, A03, B07, and B44). The percentages of patients who possessed at least one of these 12 HLA alleles were significantly higher in the 353 AA patients (92%, P.
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