New progress in genetic mechanisms of congenital neutropenia / 中华实用儿科临床杂志

ABSTRACT

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 arrest of bone marrow progenitor cells mainly at the promyelocyte/myeloid stage,and most of congenital neutropenia patients 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 research,more new virulence gene will be found gradually.