期刊
ANNUAL REVIEW OF IMMUNOLOGY, VOL 29
卷 29, 期 -, 页码 399-413出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-immunol-030409-101259
关键词
innate immunity; ELANE; HAX; G6PC3; GFI1; WASP
类别
The discovery of genetic defects causing congenital neutropenia has illuminated mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes. Deficiency of the mitochondrial proteins HAX1 and AK2 cause premature apoptosis of myeloid progenitor cells associated with dissipation of the mitochondrial membrane potential, whereas mutations in ELA2/ELANE and G6PC3 are associated with signs of increased endoplasmic reticulum stress. Mutations in the transcriptional repressor GFI1 and the cytoskeletal regulator WASP also lead to defective neutrophil production. This unexpected diversity of factors suggests that multiple pathways are involved in the pathogenesis of congenital neutropenia.
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