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Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia

Title
Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia
Authors
Jeong, T. -D.Mun, Y. -C.Chung, H. -S.Seo, D.Im, J.Huh, J.
Ewha Authors
허정원문영철정태동
SCOPUS Author ID
허정원scopus; 문영철scopus; 정태동scopus
Issue Date
2017
Journal Title
HLA
ISSN
2059-2302JCR Link2059-2310JCR Link
Citation
vol. 89, no. 1, pp. 47 - 51
Keywords
aplastic anemiacytotoxic T lymphocyteHLA-Bmutation
Publisher
WILEY-BLACKWELL
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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, themutantHLA allele was not detected by high-resolution sequence-basedHLA 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.
DOI
10.1111/tan.12943
Appears in Collections:
의과대학 > 의학과 > Journal papers
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