一种涉及Fas途径的淋巴细胞凋亡的遗传性疾病：自身免疫性淋巴增殖综合征。
A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome.
作者信息
Fleisher T A, Straus S E, Bleesing J J
机构信息
Department of Laboratory Medicine, Warren G. Magnuson Clinical Center and Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Curr Allergy Asthma Rep. 2001 Nov;1(6):534-40. doi: 10.1007/s11882-001-0062-y.
Autoimmune lymphoproliferative syndrome (ALPS) is a recently characterized human disorder that typically presents with lymphocyte accumulation in the first few years of life. This is often associated with the development of autoimmunity, most commonly affecting the hematopoietic system. A key laboratory feature is the marked expansion of double-negative (CD4- and CD8-) T cells that express the alpha/beta T-cell receptor. ALPS is associated with defective Fas-mediated lymphocyte apoptosis, and in most patients, this results from a heterozygous mutation in the TNFRSF6 gene encoding Fas. The clinical features of ALPS reveal the importance of the Fas apoptotic pathway in maintaining lymphocyte homeostasis and protecting against autoimmunity and lymphoid malignancy.
自身免疫性淋巴细胞增生综合征（ALPS）是一种最近才被明确的人类疾病，通常在生命的最初几年出现淋巴细胞积聚。这常与自身免疫的发展相关，最常见的是影响造血系统。一个关键的实验室特征是表达α/β T细胞受体的双阴性（CD4 - 和CD8 - ）T细胞显著扩增。ALPS与Fas介导的淋巴细胞凋亡缺陷有关，在大多数患者中，这是由编码Fas的TNFRSF6基因杂合突变引起的。ALPS的临床特征揭示了Fas凋亡途径在维持淋巴细胞稳态以及预防自身免疫和淋巴恶性肿瘤方面的重要性。
Zotero 插件