دورية أكاديمية
Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia
| العنوان: | Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia |
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| المؤلفون: | María Enriqueta Núñez-Núñez, Juan Carlos Lona-Reyes, Brenda López-Barragán, Rosa Margarita Cruz-Osorio, Bricia Melissa Gutiérrez-Zepeda, Antonio Quintero-Ramos, Denisse Stephania Becerra-Loaiza |
| المصدر: | Frontiers in Immunology, Vol 14 (2023) |
| بيانات النشر: | Frontiers Media S.A. |
| سنة النشر: | 2023 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | ELANE gene mutation, severe neutropenia, novel mutation, cyclic neutropenia (CyN), Mexican, c.416C>G, Immunologic diseases. Allergy, RC581-607 |
| الوصف: | The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we report two pathogenic mutations in ELANE, namely, c.607G>C (p.Gly203Arg) and a novel variant c.416C>G (p.Pro139Arg), found in two Mexican families ascertained via patients with congenital neutropenia who responded positively to the granulocyte colony-stimulating factor (G-CSF) treatment. These findings highlight the usefulness of identifying variants in patients with inborn errors of immunity for early clinical management and the need to rule out mosaicism in noncarrier parents with more than one case in the family. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1664-3224 |
| العلاقة: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1194262/fullTest; https://doaj.org/toc/1664-3224Test; https://doaj.org/article/bdc4f7a3a02146dfa61961722576c363Test |
| DOI: | 10.3389/fimmu.2023.1194262 |
| الإتاحة: | https://doi.org/10.3389/fimmu.2023.1194262Test https://doaj.org/article/bdc4f7a3a02146dfa61961722576c363Test |
| رقم الانضمام: | edsbas.2853D35C |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16643224 |
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| DOI: | 10.3389/fimmu.2023.1194262 |