Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163-Institut Imagine, 24 boulevard du Montparnasse, 75015, Paris, France.
Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
J Clin Immunol. 2018 Jul;38(5):558-568. doi: 10.1007/s10875-018-0523-x. Epub 2018 Jun 17.
The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. The genetic etiology of the ALPS was described in 1995 by the discovery of the FAS gene mutations. The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic defects of this apoptosis pathway, such as FADD and CASPASE 8 deficiencies. The ALPS-FAS was the first description of a monogenic cause of autoimmunity, but its non-Mendelian expression remained elusive until the description of somatic and germline mutations in ALPS patients. The recognition of these genetic diseases brought new information on the role of this apoptotic pathway in controlling the adaptive immune response in humans.
自身免疫性淋巴组织增生综合征（ALPS）是一种非恶性、非传染性的淋巴细胞失控性增殖，并伴有自身免疫性血细胞减少症。ALPS 的遗传病因于 1995 年通过 Fas 基因突变的发现而被描述。相关的凋亡缺陷导致自身反应性淋巴细胞的积累，以及区分 ALPS-FAS 与该凋亡途径的其他单基因缺陷（如 FADD 和 CASPASE 8 缺乏）的特定临床和生物学特征。ALPS-FAS 是对自身免疫的单基因病因的首次描述，但直到在 ALPS 患者中描述了体细胞和种系突变，其非孟德尔表达仍然难以捉摸。对这些遗传性疾病的认识为该凋亡途径在控制人类适应性免疫反应中的作用带来了新的信息。
