Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.

@article{KhannaGupta2007GrowthFI,
  title={Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.},
  author={Arati Khanna-Gupta and Hong Sun and Theresa Zibello and Han Myung Lee and Richard Dahl and Laurence Boxer and Nancy Berliner},
  journal={Blood},
  year={2007},
  volume={109 10},
  pages={4181-90}
}
Neutrophil-specific granule deficiency (SGD) is a rare congenital disorder marked by recurrent bacterial infections. Neutrophils from SGD patients lack secondary and tertiary granules and their content proteins and lack normal neutrophil functions. Gene-inactivating mutations in the C/EBPepsilon gene have been identified in 2 SGD patients. Our studies on a third SGD patient revealed a heterozygous mutation in the C/EBPepsilon gene. However, we demonstrate elevated levels of C/EBPepsilon and PU… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 22 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 42 references

Similar Papers

Loading similar papers…