Familial immune-mediated aplastic anaemia in six different families.

Authors :: Imi T
Mizumaki H
Hosomichi K
Nannya Y
Zaimoku Y
Yoroidaka T
Katagiri T
Ishiyama K
Yamazaki H
Ogawa R
Kuroiwa M
Tajima A
Ogawa S
Nakao S
Source :: EJHaem [EJHaem] 2023 Jun 28; Vol. 4 (3), pp. 714-718. Date of Electronic Publication: 2023 Jun 28 (Print Publication: 2023).
Publication Year :: 2023
Abstract: We studied the pathophysiology of aplastic anaemia (AA) in six different pairs of relatives without a family history of hematologic disorders or congenital AA. Five and four of the six pairs shared the HLA-DRB1*15:01 and B*40:02 alleles, respectively. Glycosylphosphatidylinositol-anchored protein-deficient blood cells were detected in eight of the 10 patients evaluated. In a mother-daughter pair from one family, flow cytometry detected leukocytes lacking HLA-A2 due to loss of heterogeneity in chromosome 6p. Whole-exome sequencing of the family pair revealed a missense mutation in MYSM1 . These results suggest that genetic inheritance of immune traits might underlie familial AA in some patients.<br />Competing Interests: The authors declare no conflict of interest associated with this study. The funders had no role in the study design, data collection and analysis, decision to publish or manuscript preparation.<br /> (© 2023 The Authors. eJHaem published by British Society for Haematology and John Wiley & Sons Ltd.)