MonoMAC syndrome.
- Author:
Zhao-Long CHEN
1
;
Yun-Fei AN
;
Xiao-Dong ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: GATA2 Transcription Factor; genetics; Humans; Immunologic Deficiency Syndromes; genetics; Monocytes; pathology; Mutation; Mycobacterium Infections; etiology; Syndrome
- From: Chinese Journal of Contemporary Pediatrics 2014;16(8):869-873
- CountryChina
- Language:Chinese
- 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.
