DOCK8 deficiency
DOCK8 deficiency
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DOI：
10.1111/j.1749-6632.2011.06295.x
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Zhang, Qian
中科院分区：
文献类型：
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作者：
Su, Helen C.;Jing, Huie;Zhang, Qian
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this disease. In this review, we relate the clinical features of this disease to studies using patients' cells and a mouse model of Dock8 deficiency, which have revealed how DOCK8 regulates T and B cell numbers and functions. The results of these studies help to explain how the absence of DOCK8 contributes to patients' susceptibility to viral, fungal, and bacterial infections. However, unanswered questions remain regarding how the absence of DOCK8 also leads to high IgE and allergic disease, predisposition for malignancy, and unusual clinical features, such as CNS abnormalities and autoimmunity, observed in some patients.
