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

• Published in: Frontiers in immunology Vol. 14; p. 1194262
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 18-09-2023
• Subjects: c.416C>G; Congenital Bone Marrow Failure Syndromes - genetics; cyclic neutropenia (CyN); ELANE gene mutation; Humans; Immunology; Leukocyte Elastase - genetics; Mexican; Mutation; Neutropenia - congenital; novel mutation; severe neutropenia; Mexican; cyclic neutropenia (CyN); c.416C>G; novel mutation; case report; ELANE gene mutation; c.607G>C; severe neutropenia
• ISSN: 1664-3224; 1664-3224
• DOI: 10.3389/fimmu.2023.1194262

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.