MOLECULAR MECHANISMS OF THE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

这个项目是基于我们的发现，基因 控制程序性死亡的分子突变，或者 淋巴细胞的凋亡是自身免疫的基础 淋巴增殖性综合征(ALPS)。阿尔卑斯山是一种疾病 影响正常淋巴细胞动态平衡丧失的儿童 会导致淋巴腺和器官肿大。因为淋巴细胞是 介导免疫反应的初级细胞，这种过剩的 淋巴细胞导致病理性自身免疫攻击 病人自己的组织。我们已经发现了一种突变 死亡诱导细胞表面受体又称Fas(又称 Apo-1或CD95)，在过去一年中，蛋白水解酶是 对淋巴细胞程序性细胞死亡至关重要。这些研究 承诺提供对分子机制的新见解 自身免疫力不足的疾病，以及揭示了 淋巴细胞程序性细胞死亡的途径。

This project is based on our discovery that genetic mutations in molecules that control the programmed death, or apoptosis, of lymphocytes underlie the Autoimmune Lymphoproliferative Syndrome (ALPS). ALPS is a disease affecting children in which a loss of normal lymphocyte homeostasis leads to swollen lymph glands and organs. Because lymphocytes are the primary cells mediating immune reactions, this excess of lymphocytes leads to a pathological autoimmune attack on the patient's own tissues. We have identified mutations in a death-inducing cell surface receptor termed Fas (also known as APO-1 or CD95) and, in the past year, proteolytic enzymes that are crucial to lymphocyte programmed cell death. These studies promise to provide new insights into the molecular mechanisms that underly autoimmune disease as well as revealing crucial steps in the pathway of programmed cell death in lymphocytes.