Document Type
Article
Publication Date
11-23-2011
Description
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense, frameshift, or nonsense mutations in the gp91 phox gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deletion, a so-called "Contiguous Gene Deletion Syndrome" may result. The contiguous gene deletion syndrome is known to associate the Kell phenotype/McLeod syndrome with diseases such as X-linked chronic granulomatous disease, Duchenne muscular dystrophy, and X-linked retinitis pigmentosa. These patients are often complicated and management requires special attention to the various facets of the syndrome. © 2011 Watkins et al; licensee BioMed Central Ltd.
Creative Commons License
This work is licensed under a Creative Commons Attribution 3.0 License.
Citation Information
Watkins, Casey E.; Litchfield, John; Song, Eunkyung; Jaishankar, Gayatri B.; Misra, Niva; Holla, Nikhil; Duffourc, Michelle; and Krishnaswamy, Guha. 2011. Chronic Granulomatous Disease, The Mcleod Phenotype and the Contiguous Gene Deletion Syndrome - a Review. Clinical and Molecular Allergy. Vol.9 https://doi.org/10.1186/1476-7961-9-13 ISSN: 1476-7961
Copyright Statement
© 2011 Watkins et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.