GATA2 and immunodeficiency disease: This protein plays a critical role in the homeostasis of hematopoietic stem cells and the development of lymphocytes.[1] Patients with GATA2 mutations present with various clinical manifestations,[2] primarily multiple types of cytopenia, including B-cell, natural killer (NK)-cell, monocyte, and lymphocyte cytopenias; familial myelodysplastic syndrome/acute myeloid leukaemia (AML); susceptibility to immunodeficiency and various infections; pulmonary alveolar proteinosis; and pulmonary hypertension.