六个不同家族中的家族性免疫介导再生障碍性贫血。

Familial immune-mediated aplastic anaemia in six different families.

作者信息

Imi Tatsuya, Mizumaki Hiroki, Hosomichi Kazuyoshi, Nannya Yasuhito, Zaimoku Yoshitaka, Yoroidaka Takeshi, Katagiri Takamasa, Ishiyama Ken, Yamazaki Hirohito, Ogawa Ryosuke, Kuroiwa Mika, Tajima Atsushi, Ogawa Seishi, Nakao Shinji

机构信息

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

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

出版信息

EJHaem. 2023 Jun 28;4(3):714-718. doi: 10.1002/jha2.722. eCollection 2023 Aug.

DOI:10.1002/jha2.722

PMID:37601868

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10435714/

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 and 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 . These results suggest that genetic inheritance of immune traits might underlie familial AA in some patients.

摘要

我们研究了六对无血液系统疾病家族史或先天性再生障碍性贫血（AA）家族史的亲属的再生障碍性贫血（AA）病理生理学。六对亲属中分别有五对和四对共享了和等位基因。在评估的10例患者中的8例检测到糖基磷脂酰肌醇锚定蛋白缺陷的血细胞。在一个家族的母女对中，流式细胞术检测到由于6号染色体短臂异质性缺失导致缺乏HLA - A2的白细胞。对该家族对进行全外显子测序发现存在错义突变。这些结果表明，免疫性状的遗传可能是部分患者家族性AA的基础。