Novel Point Mutation in the Extracellular Domain of the Granulocyte Colony-Stimulating Factor (G-Csf) Receptor in a Case of Severe Congenital Neutropenia Hyporesponsive to G-Csf Treatment

@article{Ward1999NovelPM,
  title={Novel Point Mutation in the Extracellular Domain of the Granulocyte Colony-Stimulating Factor (G-Csf) Receptor in a Case of Severe Congenital Neutropenia Hyporesponsive to G-Csf Treatment},
  author={Alister C Ward and Yvette M. van Aesch and Judith Gits and Anita M. Schelen and John P. de Koning and Daphne van Leeuwen and Melvin H. Freedman and Ivo P. Touw},
  journal={The Journal of Experimental Medicine},
  year={1999},
  volume={190},
  pages={497 - 508}
}
Severe congenital neutropenia (SCN) is a heterogeneous condition characterized by a drastic reduction in circulating neutrophils and a maturation arrest of myeloid progenitor cells in the bone marrow. Usually this condition can be successfully treated with granulocyte colony-stimulating factor (G-CSF). Here we describe the identification of a novel point mutation in the extracellular domain of the G-CSF receptor (G-CSF-R) in an SCN patient who failed to respond to G-CSF treatment. When this… CONTINUE READING