GATA2 deficiency is a protean disorder with a broad phenotype encompassing (I) multi-lineage cytopenia [DCs, monocytes, NK (natural killer) cells, B cells], (II) immunodeficiency with increased susceptibility to human papillomavirus (HPV), invasive non-tuberculous mycobacterial (NTM) and fungal infections, (III) high risk of developing hematologic malignancies (MDS/AML), (IV) pulmonary alveolar proteinosis (pulmonary disease), and (V) congenital lymphedema (vascular/lymphatic dysfunction) (171, 172). The gene discussed is GATA2; the disease is acute myeloid leukemia.