Since the first report of GATA2 as a predisposition gene for myeloid malignancies in 2010 (Scott et al., 2010), screening for germline variants in relatives has been increasingly implemented to select for HSCT donors that do not carry the variant to avoid donor‐derived MDS/AML (Galera et al., 2018) or for individuals that may need surveillance for malignancy or immunodeficiency, and this is becoming routine in many clinics (DiNardo et al., 2016; University of Chicago Hematopoietic Malignancies Cancer Risk Team, 2016). Here, GATA2 is linked to immunodeficiency disease.