期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 142, 期 4, 页码 653-656出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1365-2141.2008.07224.x
关键词
neutropenia; granulocyte colony-stimulating factor receptor; STAT5; neutrophil elastase
类别
资金
- NCI NIH HHS [CA 089135] Funding Source: Medline
Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a smaller cohort has acquired mutations truncating the granulocyte colony-stimulating factor receptor (G-CSF-R). We have described a case with constitutive extracellular G-CSF-R mutation hyporesponsive to ligand. Here we report two independent acquired G-CSF-R truncation mutations and a novel constitutive neutrophil elastase mutation in this patient. Co-expression of a truncated receptor chain restored STAT5 signalling responses of the extracellular G-CSF-R mutant, while constitutively-active STAT5 enhanced its proliferative capacity. These data add to our knowledge of SCN and further highlight the importance of STAT5 in mediating proliferative responses to G-CSF.
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