Letters to the Editor
Vol. 16 No. 1 (2024): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: December 4, 2023
Accepted: January 8, 2024
Accepted: January 8, 2024
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Citations
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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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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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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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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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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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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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
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How to Cite
“Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia” (2024) Mediterranean Journal of Hematology and Infectious Diseases, 16(1), p. e2024024. doi:10.4084/MJHID.2024.024.
Copyright (c) 2024 Junjie Ning
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