EROS is required for phagocyte NADPH oxidase function in humans and its deficiency causes Chronic Granulomatous Disease.
David C. Thomas, Louis-Marie Charbonnier, Andrea Schejtman, Hasan Aldhekri, Eve Coomber, Elizabeth R. Dufficy, Anne E. Beenken, James C. Lee, Simon Clare, Annaliese O. Speak, Adrian J. Thrasher, Giorgia Santilli, Hamoud Al-Mousa, Fowzan S. Alkuraya, Talal A. Chatila, Kenneth G.C. Smith
This paper identifies EROS as a novel cause of chronic granulomatous disease by showing that EROS deficiency in humans leads to loss of gp91phox-p22phox heterodimer and impaired phagocyte function.
bioRxiv · May 28, 2018 · PreprintImmunology