Progress of congenital neutropenia
10.3760/cma.j.issn.1673-4408.2010.05.022
- VernacularTitle:先天性中性粒细胞减少症的研究进展
- Author:
Juanjuan WANG
- Publication Type:Journal Article
- Keywords:
Neutropenia;
Mutation
- From:
International Journal of Pediatrics
2010;37(5):509-511
- CountryChina
- Language:Chinese
-
Abstract:
Congenital neutropenia is a rare primary immunodeficiency,which is classified into congenital defects of phagocyte number. It is characterized by significantly reduced number of circulating neutrophiles,often associated with early-onset severe infections, a block in bone marrow myeloid differentiation at the promyelocyte stage and high risk for development of leukemia. Congenital neutropenia occurs with sporadic, autosomal dominant,autosomal recessive and Xlinked inheritance. Recently, the numerous genes mutated in congenital neutropenia were found. Definitive cmre is provided by granulocyte colony-stimulating factor treatment and hematopoietic stem cell transplantation.
