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

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...

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Vydáno v:Front Immunol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Immunology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6930882/
https://ncbi.nlm.nih.gov/pubmed/31921117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2019.02833
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