自身免疫性淋巴细胞增生综合征发病机制的研究进展

Study advances in the pathogenesis of autoimmune lymphoproliferative syndrome

自身免疫性淋巴细胞增生综合征（ALPS）是一种常染色体显性遗传的淋巴细胞障碍性疾病,患者以淋巴结和（或）脾脏肿大为主要表现,易并发淋巴瘤,但若能对其早期干预、定期随访,患者一般预后较好.该病主要由介导T淋巴细胞凋亡的FAS等相关基因突变所致,同时增强的细胞增殖信号如PI3K-AKT-mTOR途径也发挥重要作用,共同导致以双阴性T细胞（DNT）为代表的免疫细胞和以白细胞介素10（IL-10）为代表的细胞因子相继发生变化而致病.近年国内外对ALPS的发病机制,尤其是遗传学和免疫学方面进行了深入的研究,取得了一定的进展,这对指导临床诊疗十分重要.

Autoimmune lymphoproliferative syndrome （ALPS） is an autosomal dominant genetic disor- der of lymphocytes with the enlargement of lymph nodes and （or） splenomegaly. ALPS patients are also have high rate in the development of lymphoma, but with early intervention and regular follow-up, the majority of pa- tients have better prognosis. The disease is mainly caused by the mutations in FAS gene ,which mediates the ap- optosis of T lymphocyte. Enhanced cell proliferation signal, e. g. , PI3 K-AKT-mTOR pathway also plays a signifi- cant role in the pathogenesis of ALPS. The mechanisms above contribute to the successive changes of double negative T cell （DNT） and interleukin-10 （IL-10）in this condition. Researches on the pathogenesis of ALPS in genetic and immunology are important to guide the clinical diagnosis and treatment of ALPS.