GATA2 is overexpressed in acute myeloid leukemia (AML) and loss-of-function mutations have been causally linked to immunodeficiency associated with the myelodysplastic syndromes (MDS), suggesting that an appropriate level of GATA2 activity is a prerequisite for normal hematopoiesis [25]. The gene discussed is GATA2; the disease is immunodeficiency disease.