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

Clinical and Molecular Allergy

Guha Krishnaswamy⁵  Michelle Duffourc³  Nikhil Holla²  Niva Misra¹  Gayatri B Jaishankar⁴  Eunkyung Song⁴  John Litchfield²  Casey E Watkins¹ 

[1] Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA;Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA;Department of Pharmacology, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA;Department of Pediatrics, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA;Division of Allergy, Asthma and Clinical Immunology, Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA

关键词: hemolytic;    anemia;    human;    KX antigen;    human;    XK Kell blood group precursor (McLeod phenotype);    gene deletion;    Chronic;    Granulomatous Disease;   

Others  :  790692
DOI  :  10.1186/1476-7961-9-13

 received in 2011-10-29, accepted in 2011-11-23,  发布年份 2011

【 摘 要 】

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.

【 授权许可】

   
2011 Watkins et al; licensee BioMed Central Ltd.

【 图 表 】

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