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Here, we describe the first case of inherited bone marrow (BM) failure, including marked thrombocytopenia, morphological abnormalities, and cortical dysplasia, associated with a de novo p.D249V variant in <jats:italic>TUBB<\/jats:italic>. Mutant TUBB had abnormal cellular localisation in transfected cells. Following interferon\/ribavirin therapy administered for transfusion\u2010acquired hepatitis C, severe pancytopenia and BM aplasia ensued, which was unresponsive to immunosuppression. Acquired chromosome arm 6p loss of heterozygosity was identified, leading to somatic loss of the mutant <jats:italic>TUBB<\/jats:italic> allele.<\/jats:p>","DOI":"10.1111\/bjh.18491","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T01:44:19Z","timestamp":1665193459000},"page":"222-228","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (<i>TUBB<\/i>) variant"],"prefix":"10.1111","volume":"200","author":[{"given":"Yash B.","family":"Shah","sequence":"first","affiliation":[{"name":"Comprehensive Bone Marrow Failure Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania 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