Recurrent disease after a matched sibling hematopoietic transplant in an aplastic anemia patient with a disease risk allele, HLA-B*40:02
Aplastic anemia (AA) is an immune-mediated hematopoietic disorder characterized by pancytopenia and hypocellular bone marrow. Destruction of hematopoietic stem cells (HSCs) is thought to occur by autoreactive cytotoxic T lymphocytes (CTLs), supported by the following findings: 1) high response rates to immunosuppressive therapies, 2) activated CTL, 3) HLA-restricted CTL clones, and 4) “escape clones,” leukocytes with loss of HLA as evidence of immune pressure.In AA patients, certain HLA alleles are lost from the blood cell surface, resulting from somatic nonsense mutation, or frame-shift mutations, or HLA haplotype loss in the short arm of chromosome 6 (6pLOH)3. These HLA alleles are overrepresented in AA patients in comparison to the general population thus they are considered “HLA risk alleles for A A (Table I)” with the ability to present “AA autoantigens” effectively on HSCs. Recently, we experienced an allogeneic hematopoietic cell transplantation (HSCT) for an AA patient with HLA-B*40:02, the most well-studied AA risk HLA that was reported for 1) overrepresented in AA patients in Japan and USA, 2) detected as lost HLA allele in AA patients2-4, and 3) involved in the HLA-restriction of HSCs-specific CTL clone isolated from an AA patient
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| Work Title | Recurrent disease after a matched sibling hematopoietic transplant in an aplastic anemia patient with a disease risk allele, HLA-B*40:02 |
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| License | In Copyright (Rights Reserved) |
| Work Type | Article |
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| Publication Date | November 1, 2024 |
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| Deposited | May 19, 2025 |
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