{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T04:32:21Z","timestamp":1789014741655,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:00:00Z","timestamp":1687910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>HLA\u2010DRB1*15:01<\/jats:italic> and <jats:italic>B*40:02<\/jats:italic> alleles, respectively. Glycosylphosphatidylinositol\u2010anchored protein\u2010deficient blood cells were detected in eight of the 10 patients evaluated. In a mother\u2010daughter pair from one family, flow cytometry detected leukocytes lacking HLA\u2010A2 due to loss of heterogeneity in chromosome 6p. Whole\u2010exome sequencing of the family pair revealed a missense mutation in <jats:italic>MYSM1<\/jats:italic>. These results suggest that genetic inheritance of immune traits might underlie familial AA in some patients.<\/jats:p>","DOI":"10.1002\/jha2.722","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T12:47:05Z","timestamp":1687956425000},"page":"714-718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Familial immune\u2010mediated aplastic anaemia in six different families"],"prefix":"10.1002","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7674-7368","authenticated-orcid":false,"given":"Tatsuya","family":"Imi","sequence":"first","affiliation":[{"name":"Department of Hematology Graduate School of Medical Sciences Kanazawa University  Kanazawa 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