Department of Medicine, Division of Allergy and Immunology, National Jewish Health, 1400 Jackson St, Denver, CO 80206, USA.
Curr Allergy Asthma Rep. 2012 Oct;12(5):396-401. doi: 10.1007/s11882-012-0281-4.
The activation of a T cell through T cell receptor (TCR) is fundamental to adaptive immune responses. The lymphocyte specific kinase (LCK) plays a central role in the initiation of signaling from the TCR. TCR activates LCK through the adaptor protein uncoordinated 119 (UNC119). A mutation of human UNC119 impairs LCK activation and is associated with inadequate signaling, diminished T cell responses to TCR stimulation, CD4 lymphopenia, and infections of viral, bacterial, and fungal origin. The above clinical and immunological findings meet the criteria of the idiopathic CD4 lymphopenia (ICL). The discovery of the UNC119 defect provides a molecular mechanism for a subset of patients with this previously unexplained disease. Here we review our recent findings on the UNC119 mutation in ICL.
T 细胞受体 (TCR) 激活是适应性免疫反应的基础。淋巴细胞特异性激酶 (LCK) 在 TCR 信号起始中发挥核心作用。TCR 通过衔接蛋白非协调蛋白 119 (UNC119) 激活 LCK。UNC119 的人类突变会损害 LCK 的激活，并与信号转导不足、T 细胞对 TCR 刺激的反应减弱、CD4 淋巴细胞减少以及病毒、细菌和真菌感染有关。上述临床和免疫学发现符合特发性 CD4 淋巴细胞减少症 (ICL) 的标准。UNC119 缺陷的发现为以前未阐明的疾病的一部分患者提供了分子机制。在这里，我们回顾了我们最近在 ICL 中发现的 UNC119 突变的研究结果。
