Rieux-Laucat F, Le Deist F, Hivroz C, Roberts I A, Debatin K M, Fischer A, de Villartay J P
Institut National de la Santé et de la Recherche Médicale (INSERM) U 429, Hôpital Necker-Enfants Malades, Paris, France.
Science. 1995 Jun 2;268(5215):1347-9. doi: 10.1126/science.7539157.
Fas (also known as Apo1 and CD95) is a cell surface receptor involved in apoptotic cell death. Fas expression and function were analyzed in three children (including two siblings) with a lymphoproliferative syndrome, two of whom also had autoimmune disorders. A large deletion in the gene encoding Fas and no detectable cell surface expression characterized the most affected patient. Clinical manifestations in the two related patients were less severe: Fas-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. These findings illustrate the crucial regulatory role of Fas and may provide a molecular basis for some autoimmune diseases in humans.
Fas（也称为Apo1和CD95）是一种参与凋亡性细胞死亡的细胞表面受体。对三名患有淋巴细胞增殖综合征的儿童（包括两名兄弟姐妹）进行了Fas表达和功能分析，其中两名儿童还患有自身免疫性疾病。编码Fas的基因存在大片段缺失且未检测到细胞表面表达是受影响最严重患者的特征。两名相关患者的临床表现较轻：Fas介导的细胞凋亡受损，且在胞质内结构域检测到一个缺失。这些发现说明了Fas的关键调节作用，并可能为人类某些自身免疫性疾病提供分子基础。
