Empagliflozin restores neutropenia and neutrophil dysfunction in a young patient with severe congenital neutropenia type 4

Abstract

Severe congenital neutropenia type 4 (SCN-4) is a rare primary immunodeficiency caused by loss-of-function mutations in the gene G6PC3, encoding the ubiquitously expressed glucose-6-phosphatase-β enzyme, which hydrolyses glucose-6-phosphate to glucose in the endoplasmic reticulum (ER).1 Although it is described as a multisystem autosomal-recessive disorder with a diverse spectrum of nonhematological manifestations, the main life-threatening complication is associated with persistent severe neutropenia, neutrophil dysfunction, and subsequent recurrent bacterial infections in almost all patients.