Chronic Granulomatous Disease: All Known Causative Mutations Collected

Abstract

Chronic granulomatous disease is an immunodeficiency mainly affecting children, usually at an early age, and presents as a susceptibility for severe infections with bacteria, fungi and yeasts. Patients with chronic granulomatous disease have mutations in the genes that encode the components of the leukocyte NADPH oxidase. This system generates reactive oxygen species that are essential for intracellular killing of microorganisms. In a world-wide cooperative action, all published and unpublished mutations in these genes have recently been collected. In addition, known polymorphisms in these genes have also been retrieved, thus aiding in correct interpretation of genetic analysis of the patients.

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