GATA2 germline mutations have been reported in familial MDS and AML cases presenting at a younger age, and are also observed in individuals showing the “MonoMAC or DCML deficiency”, an immunodeficiency condition involving monocytes, CD4+ cells, dendritic cells, B and NK lymphoid cells and an increased risk of developing myeloid leukemia and mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections [56]. Here, GATA2 is linked to immunodeficiency disease.