In humans, germline heterozygous GATA2 mutations result in pleiotropic manifestations with hematologic cytopenia leading to myelodysplastic neoplasms (MDS); immunodeficiency in multiple cell lineages involving B, NK, monocytic, CD4+, and dendritic cells; and can also lead to deafness and lymphedema8–10. This evidence concerns the gene GATA2 and immunodeficiency disease.