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. Here, GATA2 is linked to myelodysplastic syndrome.