MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations
Leukemia Research(2019)
摘要
•We describe “GATA2 deficiency related bone marrow and immunodeficiency disorder” (G2BMID).•G2BMID patients have hypocellular BM with no definitive dysplasia and with cytopenia.•G2BMID patients have clonal hematopoiesis with detectable MDS-associated mutations.
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关键词
bone marrow failure,myelodysplastic syndrome,cytogenetics,molecular genetics,immunodeficiencies,infectious diseases
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