Familial immune‐mediated aplastic anaemia in six different families
نویسندگان
چکیده
We studied the pathophysiology of aplastic anaemia (AA) in six different pairs relatives without a family history hematologic disorders or congenital AA. Five and four shared HLA-DRB1*15:01 B*40:02 alleles, respectively. Glycosylphosphatidylinositol-anchored protein-deficient blood cells were detected eight 10 patients evaluated. In mother-daughter pair from one family, flow cytometry leukocytes lacking HLA-A2 due to loss heterogeneity chromosome 6p. Whole-exome sequencing revealed missense mutation MYSM1. These results suggest that genetic inheritance immune traits might underlie familial AA some patients.
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ژورنال
عنوان ژورنال: EJHaem
سال: 2023
ISSN: ['2688-6146']
DOI: https://doi.org/10.1002/jha2.722