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

Frontiers in immunology - 1 Jan 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 37795094
DOI: 10.3389/fimmu.2023.1194262
PMCID: PMC10547563

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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