Impaired Efferocytosis and Production of Mitochondrial Reactive Oxygen Species (mitoROS) By Monocytes in Human Chronic Granulomatous Disease (CGD) Is Reversed By Treatment with the Ppargamma Agonist Pioglitazone (Pio)

2016 ◽  
Vol 137 (2) ◽  
pp. AB176
Author(s):  
Donna Bratton ◽  
Ruby Fernandez-Boyanapalli ◽  
Emilia Liana Falcone ◽  
Christa Zerbe ◽  
Beatrix Marciano ◽  
...  
Keyword(s):  
Reactive Oxygen Species ◽  
Chronic Granulomatous Disease ◽  
Reactive Oxygen ◽  
Oxygen Species ◽  
Granulomatous Disease ◽  
Mitochondrial Reactive Oxygen Species

EROS is required for phagocyte NADPH oxidase function in humans and its deficiency causes Chronic Granulomatous Disease

2018 ◽  
Author(s):  
David C. Thomas ◽  
Louis-Marie Charbonnier ◽  
Andrea Schejtman ◽  
Hasan Aldhekri ◽  
Eve Coomber ◽  
...  
Keyword(s):  
Reactive Oxygen Species ◽  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Reactive Oxygen ◽  
Human Cells ◽  
List Type ◽  
Oxygen Species ◽  
Granulomatous Disease ◽  
Phagocyte Nadph Oxidase

AbstractThe phagocyte respiratory burst is mediated by the phagocyte NADPH oxidase, a multi-protein subunit complex that facilitates production of reactive oxygen species and which is essential for host defence. Monogenic deficiency of individual subunits leads to chronic granulomatous disease (CGD), which is characterized by an inability to make reactive oxygen species, leading to severe opportunistic infections and auto-inflammation. However, not all cases of CGD are due to mutations in previously identified subunits. We recently showed that Eros, a novel and highly conserved ER-resident transmembrane protein, is essential for the phagocyte respiratory burst in mice because it is required for expression of gp91phox-p22phox heterodimer, which are the membrane bound components of the phagocyte NADPH oxidase. We now show that the function of EROS is conserved in human cells and describe a case of CGD secondary to a homozygous EROS mutation that abolishes EROS protein expression. This work demonstrates the fundamental importance of EROS in human immunity and describes a novel cause of CGD.Clinical ImplicationsChronic granulomatous disease is caused by an inability to make reactive oxygen species via the phagocyte NADPH oxidase. Mutations in C17ORF62/EROS, which controls gp91phox- p22phox abundance, are a novel cause of chronic granulomatous disease.Key MessagesThe murine gene, Eros, is known to regulate abundance of gp91phox-p22phox heterodimer and Eros deficient mice are susceptible to infectionWe show that the function of EROS is conserved in human cells and that a homozygous mutation in EROS causes chronic granulomatous disease

scholarly journals Tamoxifen restores extracellular trap formation in neutrophils from patients with chronic granulomatous disease in a reactive oxygen species–independent manner

2019 ◽  
Vol 144 (2) ◽  
pp. 597-600.e3 ◽  
Author(s):  
Atul Sharma ◽  
Katelyn McCann ◽  
Jitendra Kumar Tripathi ◽  
Pooja Chauhan ◽  
Christa Zerbe ◽  
...  
Keyword(s):  
Reactive Oxygen Species ◽  
Chronic Granulomatous Disease ◽  
Reactive Oxygen ◽  
Oxygen Species ◽  
Granulomatous Disease ◽  
Independent Manner ◽  
Trap Formation ◽  
Extracellular Trap

scholarly journals Reactive oxygen species-independent activation of the IL-1  inflammasome in cells from patients with chronic granulomatous disease

2010 ◽  
Vol 107 (7) ◽  
pp. 3030-3033 ◽  
Author(s):  
F. L. van de Veerdonk ◽  
S. P. Smeekens ◽  
L. A. B. Joosten ◽  
B. J. Kullberg ◽  
C. A. Dinarello ◽  
...  
Keyword(s):  
Reactive Oxygen Species ◽  
Chronic Granulomatous Disease ◽  
Reactive Oxygen ◽  
Oxygen Species ◽  
Granulomatous Disease ◽  
In Cells
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