Neutrophil elastase in cyclic and severe congenital neutropenia.

@article{Horwitz2007NeutrophilEI,
  title={Neutrophil elastase in cyclic and severe congenital neutropenia.},
  author={Marshall S Horwitz and Zhijun Duan and Brice Korkmaz and Hu-Hui Lee and Matthew E. Mealiffe and Stephen J. Salipante},
  journal={Blood},
  year={2007},
  volume={109 5},
  pages={1817-24}
}
Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermansky-Pudlak syndrome type 2 (HPS2) and results from mutations in AP3B1 encoding a subunit of a complex… CONTINUE READING
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Identification of exon-skipping AP3B1 mutation and NKT cell deficiency in Hermansky-Pudlak syndrome, type

  • J Jung, G Bohn, A Allroth
  • 2006

Identification of exonskipping AP 3 B 1 mutation and NKT cell deficiency in HermanskyPudlak syndrome , type 2

  • J Jung, G Bohn, A Allroth
  • Blood
  • 2006

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