title: [GATA2 deficiency].
abstract: GATA2 is a transcription factor that is involved in the lympho-hematopoiesis. Mutations of GATA2 cause MonoMAC syndrome (monocytopenia and mycobacterial infections)/DCML deficiency (dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency), Emberger syndrome (lymphoedema with MDS), and MDS/AML. In this review, we explain the new function of GATA2, and describe the clinical phenotypes, laboratory findings, pathology, genetic anomalies and etiology.
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
mesh_terms: D000818:Animals; D001402:B-Lymphocytes; D003713:Dendritic Cells; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D006801:Humans; D007694:Killer Cells, Natural; D007970:Leukopenia / Q000209:etiology; D008209:Lymphedema / Q000209:etiology; D051379:Mice; D009000:Monocytes; D009164:Mycobacterium Infections / Q000209:etiology
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human