GATA2 is a zinc finger transcription factor essential for multilineage hematopoiesis and lymphatic angiogenesis 1. It functions as a DNA-binding transcriptional activator that regulates endothelin-1 gene expression and binds the consensus sequence 5'-AGATAG-3'. GATA2 is critical for development of B lymphocytes, monocytes, natural killer cells, and dendritic cells from multilineage progenitors 2. Heterozygous loss-of-function mutations in GATA2 cause haploinsufficiency, leading to GATA2 deficiency syndrome—one of the most common inherited bone marrow failure disorders 3. This syndrome presents with variable clinical features including immunodeficiency with susceptibility to mycobacterial, fungal, and viral infections; cytopenias; lymphedema; pulmonary alveolar proteinosis; and myelodysplasia 21. Patients have markedly increased lifetime risk for myelodysplastic syndrome and acute myeloid leukemia, with disease progression often associated with cytogenetic abnormalities (monosomy 7, trisomy 8) and secondary mutations in ASXL1 or STAG2 24. Presentation ranges from early childhood to late adulthood, with notable phenotypic heterogeneity even among family members carrying identical mutations 2. Allogeneic hematopoietic stem cell transplantation is currently the only curative treatment, reversing most clinical manifestations 13.