Inactivating mutations in GATA2 were identified as responsible for Emberger syndrome, an autosomal dominant primary lymphedema that is associated with a predisposition to acute myeloid leukemia (AML) [51], as well as in familial myelodysplastic syndrome/AML or MonoMAC syndrome and primary lymphedema [50]. The gene discussed is GATA2; the disease is primary lymphedema.