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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
Frontiers in immunology, 09/2023, Letnik: 14Journal Article
The most common causes of congenital neutropenia are mutations in the (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 , 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.
