MonoMAC综合征  

MonoMAC syndrome

作　　者：陈照龙 安云飞[1] 赵晓东[1] 

机构地区：[1]重庆医科大学附属儿童医院,重庆400014

出　　处：《中国当代儿科杂志》2014年第8期869-872,F0003,共5页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金(81172878)

摘　　要：MonoMAC综合征为新近发现的一种免疫缺陷综合征,是由GATA-2基因突变所致的常染色体显性遗传病。MonoMAC综合征有典型的免疫细胞异常,常伴有严重的感染,易转化为恶性血液系统疾病。该病目前主要依靠对症治疗及造血干细胞移植。该文对MonoMAC综合征的临床表现、实验室检查、发病机制及诊断和治疗的研究进展进行综述。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.

关 键 词：原发性免疫缺陷病 GATA-2缺陷 单核细胞缺乏症 非结核分枝杆菌病 

分 类 号：R725.9[医药卫生—儿科]