Discussion: Both patients had GATA2 deficiency with Emberger syndrome (MDS and lymphedema) and monosomy of 7, as well as mutations in ASXL1 and SETBP1. The immunophenotyping of both is characteristic, with a reduction in precursors and B lymphocytes, in addition to monocytopenia. The gene discussed is ASXL1; the disease is myelodysplastic syndrome.