title: [MonoMAC syndrome].
abstract: MonoMAC syndrome is a newly discovered immune deficiency syndrome caused by GATA-2 mutation, which is an autosomal dominant genetic disease. MonoMAC syndrome has typical immune cell abnormalities, with severe infection and is prone to develop into a hematological disease. Therapeutics for this disease mainly relies on symptomatic treatment and hematopoietic stem cell transplantation. In this paper, the research advances in clinical manifestations, laboratory tests, pathogenesis, diagnosis and treatment of MonoMAC syndrome are reviewed.
authors.affiliation: Children's Hospital of Chongqing Medical University, Chongqing 400014, China. chentcm@163.com.
authors.forename: Zhao-Long
authors.initials: ZL
authors.lastname: Chen
authors.forename: Yun-Fei
authors.initials: YF
authors.lastname: An
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zhao
mesh_terms: D050989:GATA2 Transcription Factor / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009000:Monocytes / Q000473:pathology*; D009154:Mutation; D009164:Mycobacterium Infections / Q000209:etiology*; D013577:Syndrome
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human