|
|||||
|
|
Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review |
|
| Authors: | Casey E Watkins John Litchfield Eunkyung Song Gayatri B Jaishankar Niva Misra Nikhil Holla Michelle Duffourc Guha Krishnaswamy |
| Affiliation: | 1. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA 2. Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA 3. Department of Pediatrics, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA 4. Department of Pharmacology, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA 5. Division of Allergy, Asthma and Clinical Immunology, Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA |
| Abstract: | 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. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |