"GATA2 is a gene that codes for the transcription factor GATA2, vital for the proper functioning of haematopoietic stem cells and lymphangiogenesis (i.e. the creation of lymphatics). Heterozygous germ-line mutations are thought to arise spontaneously but are then transmitted by autosomal dominant inheritance."
"GATA2 deficiency has considerably variable clinical manifestations. It predisposes to myelodysplastic syndrome (MDS) / acute myelogenous leukaemia (AML), congenital lymphoedema and pulmonary alveolar proteinosis, and an immunodeficiency that renders the patient highly susceptible to viruses, especially human papillomavirus (HPV) and Epstein-Barr virus (EBV), and non-tuberculous mycobacteria."