Familial immune‐mediated aplastic anaemia in six different families-Reference-Cited by-同舟云学术

Familial immune‐mediated aplastic anaemia in six different families

Published:2023-06-28 Issue:3 Volume:4 Page:714-718
ISSN:2688-6146
Container-title:eJHaem
language:en
Short-container-title:eJHaem

Author:

Imi Tatsuya¹^ORCID,Mizumaki Hiroki¹^ORCID,Hosomichi Kazuyoshi²,Nannya Yasuhito³⁴,Zaimoku Yoshitaka¹^ORCID,Yoroidaka Takeshi¹,Katagiri Takamasa⁵^ORCID,Ishiyama Ken¹^ORCID,Yamazaki Hirohito¹^ORCID,Ogawa Ryosuke⁶,Kuroiwa Mika⁷,Tajima Atsushi²^ORCID,Ogawa Seishi³,Nakao Shinji¹^ORCID

Affiliation:

1. Department of Hematology Graduate School of Medical Sciences Kanazawa University Kanazawa Japan

2. Department of Bioinformatics and Genomics Graduate School of Advanced Preventive Medical Sciences Kanazawa University Kanazawa Japan

3. Pathology and Tumor Biology Graduate School of Medicine Kyoto University Kyoto Japan

4. Division of Hematopoietic Disease Control Institute of Medical Sciecen The University of Tokyo Tokyo Japan

5. Department of Clinical Laboratory Sciences Graduate School of Medical Sciences Kanazawa University Kanazawa Japan

6. Department of Hematology and Oncology Japan Community Health Care Organization Kyushu Hospital Fukuoka Japan

7. Department of Hematology and Oncology National Hospital Organization Fukuoka Higashi Medical Center Fukuoka Japan

Abstract

AbstractWe 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.

Publisher

Wiley

Subject

General Earth and Planetary Sciences

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jha2.722

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