The GATA2 syndrome was first described in 2011 in patients presenting with monocytopenia, B cells, B-cell precursors, and NK cells deficiency, and/or absence of plasmacytoid dendritic cells in blood; late onset infections (non-tuberculous mycobacterial, fungal, or human papillomavirus (HPV) infections); pulmonary alveolar proteinosis; increased risk of progress to MDS or AML; and an autosomal dominant inheritance pattern due to haplo-insufficient mutations in one allele of GATA2 [166]. The gene discussed is GATA2; the disease is Down syndrome.