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

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Junjie Ning
a:1:{s:5:"en_US";s:38:"First People's Hospital of Zigong City";}

Keywords

Congenital neutropenia, ELANE

Abstract

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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
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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
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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
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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
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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
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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
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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

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Published
Feb 29, 2024
DOI https://doi.org/10.4084/MJHID.2024.024

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How to Cite

Ning, J. (2024) “Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia”, Mediterranean Journal of Hematology and Infectious Diseases, 16(1), p. e2024024. doi: 10.4084/MJHID.2024.024.
Issue
Vol. 16 No. 1 (2024): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Section
Letters to the Editor
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