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- Title
Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia.
- Authors
Tantravahi, Srinivas K.; Huber, Bryan D.; Vagher, Jennie; Maese, Luke; Pomicter, Anthony D.; Al‐Sweel, Najla; Asch, Julie D.; Toydemir, Reha M.; Hong, Bo; Parker, Charles
- Abstract
Specimen 3 shows that the bone marrow consists only of cells with GW-UPD, demonstrating loss of both the 6p CN-LOH cells and the normal cell population. Specimen 2 shows the same cell populations in the following different ratios: cells with genome-wide uniparental disomy (GW-UPD) in ~30%, cells with 6p CN-LOH in ~15%, and heterozygous cells in ~55%. Loss of function of human leucocyte antigen (HLA) occurs due to somatic gene mutations and copy-number-neutral loss of heterozygosity (CN-LOH), and HLA loss in acquired aplastic anaemia (aAA) is non-randomly associated with specific HLA alleles (risk alleles).1-3 Herein we report a novel mechanism (genome-wide uniparental disomy, GW-UPD) of immune escape in a patient with aAA with two, in cis, class I HLA risk alleles.
- Subjects
APLASTIC anemia; PAROXYSMAL hemoglobinuria; BLOOD cell count; SOMATIC mutation; CELL populations; ERYTHROCYTES
- Publication
British Journal of Haematology, 2022, Vol 198, Issue 6, pe78
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.18351