Article
A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.
Frontiers in immunology - 1 Jan 2019
Lee Wen-I, Fan Wen-Lang, Lu Chun-Hao, Chen Shih-Hsiang, Kuo Ming-Ling, Lin Syh-Jae, Tsai Weng-Sheng, Jaing Tang-Her, Chen Li-Chen, Yeh Kuo-Wei, Yao Tsung-Chieh, Huang Jing-Long
Abstract excerpt
The T-cell receptor (TCR)/CD3 complex is crucial for T-cell development and regulation. In humans, CD3D, CD3E, and CD3Z gene defects cause severe combined T- and B-cell immunodeficiency. However, CD3G mutations alone lead to a less severe condition, which is mainly characterized by autoimmunity. In the present study, we report the case of a 36-year-old male who presented with recurrent sinopulmonary infections...
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