Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Qianru Huang; Xu Liu; Yujia Zhang; Jingyao Huang; Dan Li; Bin Li

doi:10.1016/j.jgg.2019.11.011

Volume 47 Issue 1

Jan. 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(1): 17-26

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Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

doi: 10.1016/j.jgg.2019.11.011

Shanghai Institute of Immunology, Department of Immunology and Microbiology, Shanghai Jiao Tong University School of Medicine, Shanghai Jiao Tong University, Shanghai, 200025, China

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Corresponding author: E-mail address: danli@shsmu.edu.cn (Dan Li); E-mail address: binli@sibs.ac.cn (Bin Li)
Publish Date: 2020-01-25

Abstract

Abstract

Regulatory T (Treg) cells, a subtype of immunosuppressive CD4⁺ T cells, are vital for maintaining immune homeostasis in healthy people. Forkhead box protein P3 (FOXP3), a member of the forkhead-winged-helix family, is the pivotal transcriptional factor of Treg cells. The expression, post-translational modifications, and protein complex of FOXP3 present a great impact on the functional stability and immune plasticity of Treg cells in vivo. In particular, the mutation of FOXP3 can result in immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is a rare genetic disease mostly diagnosed in early childhood and can soon be fatal. IPEX syndrome is related to several manifestations, including dermatitis, enteropathy, type 1 diabetes, thyroiditis, and so on. Here, we summarize some recent findings on FOXP3 regulation and Treg cell function. We also review the current knowledge about the underlying mechanism of FOXP3 mutant-induced IPEX syndrome and some latest clinical prospects. At last, this review offers a novel insight into the role played by the FOXP3 complex in potential therapeutic applications in IPEX syndrome.
- IPEX syndrome,
- Regulatory T cell,
- Immune cell therapy,
- FOXP3,
- Post-translational modification,
- Transcriptional complex ensemble

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References(132)

References

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