Chronic granulomatous disease

Chronic granulomatous disease is a rare, inherited primary immunodeficiency disorder affecting innate immunity, most commonly diagnosed in childhood but occasionally identified in adults

Chronic granulomatous disease is a rare, inherited primary immunodeficiency disorder affecting innate immunity, most commonly diagnosed in childhood but occasionally identified in adults

It is caused by genetic defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme complex, which impairs the respiratory burst and prevents neutrophils, monocytes, and macrophages from producing the reactive oxygen species needed for microbial killing Pathophysiologically, this defect leads to recurrent, life-threatening bacterial and fungal infections—particularly by catalase-positive organisms—alongside excessive, dysregulated inflammation characterized by gra...

It is caused by genetic defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme complex, which impairs the respiratory burst and prevents neutrophils, monocytes, and macrophages from producing the reactive oxygen species needed for microbial killing

It is caused by genetic defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme complex, which impairs the respiratory burst and prevents neutrophils, monocytes, and macrophages from producing the reactive oxygen species needed for microbial killing

Pathophysiologically, this defect leads to recurrent, life-threatening bacterial and fungal infections—particularly by catalase-positive organisms—alongside excessive, dysregulated inflammation characterized by granuloma formation and tissue damage across organ systems such as the lungs, lymph nodes, liver, skin, and gastrointestinal tract