慢性肉芽肿病、麦克劳德表型与连续性基因缺失综合征——综述
Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review.
作者信息
Watkins Casey E, Litchfield John, Song Eunkyung, Jaishankar Gayatri B, Misra Niva, Holla Nikhil, Duffourc Michelle, Krishnaswamy Guha
机构信息
Division of Allergy, Asthma and Clinical Immunology, Department of Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA.
出版信息
Clin Mol Allergy. 2011 Nov 23;9:13. doi: 10.1186/1476-7961-9-13.
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.
慢性肉芽肿病（CGD）是一种NADPH氧化酶系统疾病，会导致吞噬细胞功能缺陷，进而引发细菌和真菌病原体（如曲霉菌和白色念珠菌）感染。位于X染色体Xp21.1区域的gp91phox基因（也称为CYBB）的缺失以及错义、移码或无义突变与最常见形式的CGD相关。当发生较大的X染色体缺失，包括XK基因缺失时，可能会导致所谓的“连续基因缺失综合征”。已知连续基因缺失综合征会将凯尔血型/麦克劳德综合征与诸如X连锁慢性肉芽肿病、杜氏肌营养不良症和X连锁视网膜色素变性等疾病联系起来。这些患者情况往往较为复杂，治疗需要特别关注该综合征的各个方面。
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