Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia

Main Article Content

Junjie Ning

Keywords

Congenital neutropenia, ELANE

Abstract

NA

Downloads

Download data is not yet available.


Abstract 275
PDF Downloads 795
HTML Downloads 21

References

1.Donadieu, J., Beaupain, B., Mahlaoui, N., & Bellanné-Chantelot, C. (2013). Epidemiology of congenital neutropenia. Hematology/oncology clinics of North America, 27(1), 1–vii. https://doi.org/10.1016/j.hoc.2012.11.003
PMid:23351985
2.Kurnikova, M., Maschan, M., Dinova, E., Shagina, I., Finogenova, N., Mamedova, E., Polovtseva, T., Shagin, D., & Shcherbina, A. (2011). Four novel ELANE mutations in patients with congenital neutropenia. Pediatric blood & cancer, 57(2), 332–335. https://doi.org/10.1002/pbc.23104
PMid:21425445
3.Shu, Z., Li, X. H., Bai, X. M., Zhang, Z. Y., Jiang, L. P., Tang, X. M., & Zhao, X. D. (2015). Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations. The Pediatric infectious disease journal, 34(2), 203–207. https://doi.org/10.1097/INF.0000000000000522
PMid:25162927
4.Germeshausen, M., Deerberg, S., Peter, Y., Reimer, C., Kratz, C. P., & Ballmaier, M. (2013). The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Human mutation, 34(6), 905–914. https://doi.org/10.1002/humu.22308
PMid:23463630
5.Arun, A. K., Senthamizhselvi, A., Hemamalini, S., Edison, E. S., Korula, A., Fouzia, N. A., George, B., Mathews, V., & Balasubramanian, P. (2018). Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin. Journal of clinical pathology, 71(12), 1046–1050. https://doi.org/10.1136/jclinpath-2018-205235
PMid:30171085
6.Grenda, D. S., Murakami, M., Ghatak, J., Xia, J., Boxer, L. A., Dale, D., Dinauer, M. C., & Link, D. C. (2007). Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood, 110(13), 4179–4187. https://doi.org/10.1182/blood-2006-11-057299
PMid:17761833
7.Newburger, P. E., Pindyck, T. N., Zhu, Z., Bolyard, A. A., Aprikyan, A. A., Dale, D. C., Smith, G. D., & Boxer, L. A. (2010). Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatric blood & cancer, 55(2), 314–317. https://doi.org/10.1002/pbc.22537
PMid:20582973