Abstract

Chronic granulomatous disease is an immunodeficiency that manifests in young children as 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. Mutations in this gene cause the X-linked, most prevalent form of chronic granulomatous disease, affecting about 65% of the patients. The other four components are encoded by autosomal genes. In two recent articles, all variations in these five genes, published and unpublished, have been collected from almost 5000 patients, thus substantially aiding in the correct interpretation of genetic diagnosis.

Keywords: Chronic granulomatous disease; Mutations; NADPH oxidase; CYBB; CYBA; NCF1; NCF2; X chromosome