ISSN: 2161-1165

Epidemiology: Open Access
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  • Commentary   
  • Epidemiol Sci,
  • DOI: 10.4172/2161-1165.1000412

A Complete Collection of Genetic Variations That Cause Chronic Granulomatous Disease

Dirk Roos*
Research Department and Landsteiner Laboratory, Sanquin Blood Supply Organization, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands
*Corresponding Author : Dirk Roos, Sanquin Blood Supply Organization, Research Department and Landsteiner Laboratory,Amsterdam University Medical Center, Location AMC,Amsterdam, The Netherlands, Email: D.Roos@sanquin.nl

Received Date: Aug 03, 2021 / Accepted Date: Aug 17, 2021 / Published Date: Aug 24, 2021

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 In two recent articles, all variations in these five genes, published and unpublished, have been collected from almost 5000 patients, thus substantially aiding in the correct interpretation of genetic diagnosis.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

Citation: Roos D (2021) A Complete Collection of Genetic Variations That Cause Chronic Granulomatous Disease. Epidemiol Sci 11: 001. Doi: 10.4172/2161-1165.1000412

Copyright: © 2021 Roos D. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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