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Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review. 2011

Casey E Watkins, and John Litchfield, and Eunkyung Song, and Gayatri B Jaishankar, and Niva Misra, and Nikhil Holla, and Michelle Duffourc, and Guha Krishnaswamy
Division of Allergy, Asthma and Clinical Immunology, Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA. krishnas@mail.etsu.edu.

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 gp91phox 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.

UI MeSH Term Description Entries

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