Chronic granulomatous disease

Chronic granulomatous disease is an inherited disorder in which phagocytes have impaired NADPH oxidase activity, weakening their ability to kill certain bacteria and fungi and often causing recurrent infections and granulomas.

NADPH oxidase: A multi-subunit enzyme complex that generates superoxide in phagocytes and other cells. Its impaired activity is the defining biochemical defect in the disease.
Neutrophil: A circulating white blood cell that rapidly engulfs and attacks microbes. Neutrophils are major phagocytes whose microbial killing is impaired.
Dihydrorhodamine test: A flow-cytometry assay that measures oxidant production in stimulated neutrophils. It is a widely used test for detecting and characterizing NADPH oxidase dysfunction.
Aspergillus fumigatus: A mold that can cause invasive lung and other infections, especially in people with weakened immunity. It is a major cause of severe fungal infection in chronic granulomatous disease.
CYBB: A gene on the X chromosome that encodes the gp91phox subunit of NADPH oxidase. Variants in CYBB cause the most common, X-linked form of the disease.
Respiratory burst: The rapid increase in oxygen consumption by activated phagocytes that produces reactive oxygen species. The burst is weakened when NADPH oxidase cannot generate superoxide.
Macrophage: A tissue-resident immune cell that engulfs microbes, clears debris, and coordinates inflammation. Macrophages participate in microbial control and granuloma formation.
Nitroblue tetrazolium test: A laboratory assay in which superoxide-producing neutrophils reduce a yellow dye to a blue product. It is an older functional test that can reveal deficient oxidative burst.
Staphylococcus aureus: A bacterium that can cause skin, lung, bone, and bloodstream infections. It is among the bacterial pathogens associated with recurrent infections in the disease.
CYBA: A gene that encodes p22phox, a membrane subunit of the phagocyte NADPH oxidase complex. Biallelic CYBA variants cause an autosomal recessive form.

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