Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia
- 주제(키워드) aplastic anemia , cytotoxic T lymphocyte , HLA-B , mutation
- 등재 SCOPUS
- 발행기관 Blackwell Publishing Ltd
- 발행년도 2017
- 총서유형 Journal
- URI http://www.dcollection.net/handler/ewha/000000140569
- 본문언어 영어
- Published As http://dx.doi.org/SCOPUS
초록/요약
Despite prevalence of clonal evolution in patients with aplastic anemia (AA), somatic mutation of human leukocyte antigen (HLA) gene is rarely reported. Herein, we reported a case of acquired AA (aAA) harboring a new four-base-pair deletion mutation within exon 4 of HLA-B*40:02 leading to frameshift and premature stop codon. The HLA-B*40:02 mutant allele was detected in the patient's peripheral blood sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA-matched sibling donor. On day 30 after HSCT, the mutant HLA allele was not detected by high-resolution sequence-based HLA typing. Serial chimerism analyses showed mixed chimeric status indicative of coexisting donor and recipient hematopoietic cells. Our data could provide additional support in view of pathophysiology of aAA that somatic mutation of HLA-B*40:02 allele is one of the possible origin of clonal escape to evade immune attack in patient with aAA. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
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