Together, these observations show that GATA2 plays a stage‐specific differentiation role not only in the HSC but also the GMP compartment and that germline GATA2 LOF variants in humans may act similarly to predispose to distinct diseases such as MDS/AML, immunodeficiency, and lymphedema (Brown et al., 2020; Pasquet et al., 2013). Here, GATA2 is linked to immunodeficiency disease.