Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis
Jincheng Gao, Almke Bader, Monika I. Linder, Jingyuan Cheng, Mathis Richter, Raul Da Costa, Annette Zehrer, Karl Mitt, Bastian Popper, Felix Meissner, Xiang Wei, Enrique de Vega Gomez, Megumi Tatematsu, Meino Rohlfs, Stephanie Frenz-Wiessner, , Daniela Begandt
This study shows that VPS18 mutations disrupt neutrophil maturation by impairing vesicle dynamics and autophagy, leading to neutropenia and recurrent infections.
Cell Death and Disease · Jan 12, 2026Peer-reviewedPhysiology