Molecular Mechanisms Of The Autoimmune Lymphoproliferati

这个项目是基于我们的发现，即控制淋巴细胞程序性死亡或凋亡的分子的基因突变是自身免疫性淋巴增殖综合征(Alps)的原因。阿尔卑斯病是一种影响儿童的疾病，会导致正常淋巴细胞稳态丧失，导致淋巴腺和器官肿大。由于淋巴细胞是介导免疫反应的主要细胞，淋巴细胞的过剩导致病理性自身免疫攻击患者--S自己的组织。我们已经确定了一种名为Fas(也称为APO-1或CD95)的死亡诱导细胞表面受体以及其他调节细胞凋亡的分子中的突变。这些研究有望为自身免疫性疾病的分子机制提供新的见解，并揭示淋巴细胞程序性细胞死亡途径中的关键步骤。

This project is based on our discovery that genetic mutations in molecules that control the programmed death, or apoptosis, of lymphocytes is responsible for the Autoimmune Lymphoproliferative Syndrome (ALPS). ALPS is a disease affecting children that leads to loss of normal lymphocyte homeostasis leading to swollen lymph glands and organs. Because lymphocytes are the primary cell 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 other molecules that regulate apoptosis. These studies promise to provide new insights into the molecular mechanisms that underlie autoimmune disease as well as revealing crucial steps in the pathway of programmed cell death in lymphocytes.