Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

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.6...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Immunology
Subjects:
ELANE gene mutation
severe neutropenia
novel mutation
cyclic neutropenia (CyN)
Mexican
c.416C>G
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1194262/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2023.1194262/full

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