These cause a relatively milder form of the immunodeficiency phenotype observed in germline mutant GATA2 patients, along with a common presentation of AML, atypical chronic myeloid leukemia and in some cases acute erythroid leukemia (Ping et al., 2017; Sekhar et al., 2018; Alfayez et al., 2019). The gene discussed is GATA2; the disease is acute myeloid leukemia.