MonoMAC 综合征

MonoMAC syndrome

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。

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.