Fleisher Thomas A
Clinical Center, NIH, DHHS, Bethesda, MD 20892-1508, USA.
Immunol Res. 2008;40(1):87-92. doi: 10.1007/s12026-007-8001-1.
Autoimmune lymphproliferative syndrome (ALPS) is a human disorder that has been characterized in the past two decades at both a functional and a genetic level. The underlying basis for this disorder is a defect in lymphocyte apoptosis that alters immune homeostasis resulting in an expansion of a normally rare circulating lymphocyte, the alpha beta double negative T cell. The abnormality in Fas mediated apoptosis underlying ALPS serves as a risk factor for autoimmunity involving blood cells and the development of lymphoma. There remain patients with a diagnosis of ALPS but without a defined genetic defect and current investigations are focusing on fully characterizing this patient subgroup.
自身免疫性淋巴细胞增生综合征（ALPS）是一种人类疾病，在过去二十年中已在功能和基因水平上得到了表征。这种疾病的潜在基础是淋巴细胞凋亡缺陷，它改变了免疫稳态，导致一种正常情况下罕见的循环淋巴细胞——αβ双阴性T细胞扩增。ALPS潜在的Fas介导的凋亡异常是涉及血细胞自身免疫和淋巴瘤发生的危险因素。仍有一些被诊断为ALPS但无明确基因缺陷的患者，目前的研究集中在全面表征这一患者亚组。
