Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Natalia Velez-TiradoMarco Antonio Yamazaki-NakashimadaEnrique Lopez ValentínArmando Partida-GaytanSelma C Scheffler-MendozaGenny M Chaia SemerenaAristóteles Alvarez-CardonaMarcos Alejandro Suárez GutiérrezEdgar Alejandro Medina TorresPatricia Baeza CapetilloTatjana HirschmuglWojciech GarncarzSara Elva Espinosa-PadillaJesús Aguirre HernándezChristoph KleinKaan BoztugSaul Oswaldo Lugo-ReyesPublished in: Scandinavian journal of immunology (2022)
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.