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While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.<\/jats:p>","DOI":"10.1002\/cam4.384","type":"journal-article","created":{"date-parts":[[2015,1,26]],"date-time":"2015-01-26T06:35:08Z","timestamp":1422254108000},"page":"490-499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Spectrum of myeloid neoplasms and immune deficiency associated with germline <i><scp>GATA<\/scp>2<\/i> mutations"],"prefix":"10.1002","volume":"4","author":[{"given":"Muhammad A.","family":"Mir","sequence":"first","affiliation":[{"name":"Penn State Milton S. 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