GATA2 and myelodysplastic syndrome: More recently, germline GATA2 mutations have been implicated in a group of complex clinical entities with overlapping features including familial myelodysplastic syndrome/acute myeloid leukemia (AML), Emberger syndrome (primary lymphedema with MDS), and MonoMAC syndrome characterized by peripheral monocytopenia, B- and NK-cell lymphocytopenia, increased susceptibility to mycobacterium infections and a predisposition to acute myeloid leukemia and myelodysplastic syndrome.