先天性中性粒细胞减少症遗传机制新进展

New progress in genetic mechanisms of congenital neutropenia

先天性中性粒细胞减少症是遗传性骨髓衰竭综合征中的一组异质性疾病，以外周血中性粒细胞绝对值减少及骨髓粒细胞生成停滞在早／中幼粒细胞阶段为主要特征，临床上主要表现为对各种细菌感染极其敏感。目前认为基因突变如ELANE、GFI1、HAX1、G6PC3、WAS、CSF3R等与先天性中性粒细胞减少症的发生与发展有着密切的关系，且随着研究的进一步深入，一些新的致病基因也逐渐被发现。

Congenital neutropenia （CN） is a heterogeneous group of disorders in the inherited bone marrow failure syndromes （IBMFS）, characterized by a severe decrease in the number of blood neutrophils, and a maturation ar- rest of bone marrow progenitor cells mainly at the promyeloeyte/myeloid stage, and most of congenital neutropenia pa- tients are susceptibility to bacterial infections in clinically. In recent years, the mutations in ELANE, GFI1, HAX1, G6PC3, WAS, CSF3R and so on are associated with the occurrence and development of CN, and with the further re- search, more new virulence gene will be found gradually.