Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review
| Autor: | Nikhil Holla, Guha Krishnaswamy, Gayatri Bala Jaishankar, Casey E Watkins, John Litchfield, Eunkyung Song, Michelle M. Duffourc, Niva Misra |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
lcsh:Immunologic diseases. Allergy
congenital hereditary and neonatal diseases and abnormalities Immunology Nonsense mutation XK Kell blood group precursor (McLeod phenotype) Review hemolytic Frameshift mutation Chronic granulomatous disease Retinitis pigmentosa Immunology and Allergy Medicine Missense mutation McLeod syndrome CYBB human Chronic Molecular Biology X chromosome Genetics business.industry gene deletion medicine.disease anemia KX antigen Granulomatous Disease business lcsh:RC581-607 |
| Zdroj: | Clinical and Molecular Allergy, Vol 9, Iss 1, p 13 (2011) Clinical and Molecular Allergy : CMA |
| ISSN: | 1476-7961 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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