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A Complete Collection of Genetic Variations that Cause Chronic Granulomatous Disease

Dirk Roos

Chronic granulomatous disease is an immunodeficiency that manifests in young children as a susceptibility for recurrent bacterial and fungal infections. The disease is caused by mutations in the genes that encode the components of the leukocyte NADPH oxidase enzyme. This enzyme generates reactive oxygen compounds needed for killing pathogenic microorganisms and comprises five protein components. One of these components is gp91phox, encoded by CYBB, a gene on the X chromosome.Chronic granulomatous disease is an immunodeficiency that manifests in young children as a susceptibility for recurrent bacterial and fungal infections. The disease is caused by mutations in the genes that encode the components of the leukocyte NADPH oxidase enzyme. This enzyme generates reactive oxygen compounds needed for killing pathogenic microorganisms and comprises five protein components. One of these components is gp91phox, encoded by CYBB, a gene on the X chromosome.