Chan A C, Kadlecek T A, Elder M E, Filipovich A H, Kuo W L, Iwashima M, Parslow T G, Weiss A
Howard Hughes Medical Institute, Department of Medicine, University of California, San Francisco 94143.
Science. 1994 Jun 10;264(5165):1599-601. doi: 10.1126/science.8202713.
Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects in the Src-family PTKs in mice and in T cell lines have resulted in variable defects in thymic development and in T cell antigen receptor (TCR) signal transduction. Here, three siblings are described with an autosomal recessive form of severe combined immunodeficiency disease (SCID) in which ZAP-70, a non-Src PTK, is absent as a result of mutations in the ZAP-70 gene. This absence is associated with defects in TCR signal transduction, suggesting an important functional role for ZAP-70.
蛋白酪氨酸激酶（PTKs）在T细胞活化和分化过程中发挥着不可或缺的作用。小鼠和T细胞系中Src家族PTKs的缺陷导致胸腺发育和T细胞抗原受体（TCR）信号转导出现不同程度的缺陷。本文描述了三名患有常染色体隐性重症联合免疫缺陷病（SCID）的同胞，由于ZAP-70基因发生突变，导致非Src PTK的ZAP-70缺失。这种缺失与TCR信号转导缺陷相关，提示ZAP-70具有重要的功能作用。
