Various diseases associated with GATA2 deficiency mutations have been identified, including hematologic diseases, such as MDS (84%), acute myeloid leukemia (14%), chronic myelomonocytic leukemia (8%), pulmonary diseases, such as diffusion (79%) and ventilatory defects (63%), pulmonary alveolar proteinosis (18%), pulmonary arterial hypertension (9%), infectious diseases (70%), disseminated mycobacterial (53%), and invasive fungal infections (16%) (8). Here, GATA2 is linked to acute myeloid leukemia.