Article
Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.
Blood - 24 May 2018
Rowe Jared H, Delmonte Ottavia M, Keles Sevgi, Stadinski Brian D, Dobbs Adam K, Henderson Lauren A, Yamazaki Yasuhiro, Allende Luis M, Bonilla Francisco A, Gonzalez-Granado Luis I, Celikbilek Celik Seyma, Guner Sukru N, Kapakli Hasan, Yee Christina, Pai Sung-Yun, Huseby Eric S, Reisli Ismail, Regueiro Jose R, Notarangelo Luigi D
Abstract excerpt
Integrity of the T-cell receptor/CD3 complex is crucial for positive and negative selection of T cells in the thymus and for effector and regulatory functions of peripheral T lymphocytes. In humans, CD3D, CD3E, and CD3Z gene defects are a cause of severe immune deficiency and present early in life with increased susceptibility to infections. By contrast, CD3G mutations lead to milder phenotypes, mainly...
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