The main characteristics of GATA2 deficiency include cytopenia, immunodeficiency, and opportunistic infections, with an increased risk of developing myelodysplastic syndrome and AML.[3,4] Owing to the relative rarity of GATA2 deficiency, its variable clinical presentations, and the lack of specific laboratory tests, early detection can be challenging. The gene discussed is GATA2; the disease is Immunodeficiency.