AUTHOR=Núñez-Núñez María Enriqueta , Lona-Reyes Juan Carlos , López-Barragán Brenda , Cruz-Osorio Rosa Margarita , Gutiérrez-Zepeda Bricia Melissa , Quintero-Ramos Antonio , Becerra-Loaiza Denisse Stephania TITLE=Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia JOURNAL=Frontiers in Immunology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2023.1194262 DOI=10.3389/fimmu.2023.1194262 ISSN=1664-3224 ABSTRACT=

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.