Patients born with monoallelic mutations in GATA2 or in enhancers that regulate GATA2 expression suffer from the GATA2 Deficiency Syndrome, characterized by a constellation of symptoms that show incomplete penetrance and may include bone marrow failure, immunodeficiency, lymphedema, deafness, and others [11, 12]. This evidence concerns the gene GATA2 and immunodeficiency disease.