Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review

Velez-Tirado, Natalia; Yamazaki-Nakashimada, Marco Antonio; Lopez Valentin, Enrique; Partida-Gaytan, Armando; Scheffler-Mendoza, Selma C.; Chaia Semerena, Genny M.; Alvarez-Cardona, Aristoteles; Suarez Gutierrez, Marcos Alejandro; Medina Torres, Edgar Alejandro; Baeza Capetillo, Patricia; Hirschmugl, Tatjana; Garncarz, Wojciech; Espinosa-Padilla, Sara Elva; Aguirre Hernandez, Jesus; Klein, Christoph; Boztug, Kaan und Lugo Reyes, Saul O. (2022): Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. In: Scandinavian Journal of Immunology, Bd. 95, Nr. 4, e13136

Abstract

Background and objectives Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. Methods We reviewed our patients with G6PC3 deficiency diagnosed along the last decade in Mexico;we also searched the PubMed/Medline database for the terms ('G6PC3 deficiency' OR 'Dursun syndrome' OR 'Severe congenital neutropenia type 4'), and selected articles published in English from 2009 to 2020. Results We found 89 patients reported from at least 14 countries in 4 continents. We describe five new cases from Mexico. Of the 94 patients, 56% are male, 48% from Middle East countries and none of them had adverse reactions to live vaccines;all presented with at least 1 severe infection prior to age 2. Seventy-five per cent had syndromic features, mainly atrial septal defect in 55% and prominent superficial veins in 62%. Conclusions With a total of 94 patients reported in the past decade, we delineate the most frequent laboratory and genetic features, their treatment and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0300-9475
• Sprache: Englisch