Identification of auto-antigens in acquired aplastic anemia associated with clonal hematopoiesis by hematopoietic stem cells with uniparental disomy of chromosome 6p

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To determine the exact prevalence of HLA-A allele-lacking leukocytes (HLA-LLs) in patients with acquired aplastic anemia (AA), we improved the sensitivity of flow cytometry and examined peripheral blood leukocytes of patients with newly-diagnosed AA patients. HLA-LLs were detectable in 6 (28.6%) of 21 patients who were heterozygous with the HLA-A allele. The percentage of HLA-A allele-lacking granulocytes in the total granulocytes ranged from 3.9% to 61.1% (median 8.4%), which was lower than that in patients in remission after immunosuppressive therapy. Cytotoxic T cell (CTL) clones (A6) were successfully established from one of the patients possessing HLA-LLs by stimulating patient’s CD8+T cells with K562 cells transfected with HLA-B*40:02 gene. A6 CTL killed K562 in B*40:02 restricted manner but did not kill other cells including EB virus-transformed lymphoblastoid cell line and Jurkat T cell line transduced with B*40:02.