国际免疫学杂志
國際免疫學雜誌
국제면역학잡지
INTERNATIONAL JOURNAL OF IMMUNOLOGY
2014年
5期
424-429
,共6页
自身免疫性淋巴细胞增生综合征%FAS%双阴性T细胞
自身免疫性淋巴細胞增生綜閤徵%FAS%雙陰性T細胞
자신면역성림파세포증생종합정%FAS%쌍음성T세포
Autoimmune Lymphoproliferative Syndrome%FAS%Double Negative T cell
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.
自身免疫性淋巴細胞增生綜閤徵(ALPS)是一種常染色體顯性遺傳的淋巴細胞障礙性疾病,患者以淋巴結和(或)脾髒腫大為主要錶現,易併髮淋巴瘤,但若能對其早期榦預、定期隨訪,患者一般預後較好.該病主要由介導T淋巴細胞凋亡的FAS等相關基因突變所緻,同時增彊的細胞增殖信號如PI3K-AKT-mTOR途徑也髮揮重要作用,共同導緻以雙陰性T細胞(DNT)為代錶的免疫細胞和以白細胞介素10(IL-10)為代錶的細胞因子相繼髮生變化而緻病.近年國內外對ALPS的髮病機製,尤其是遺傳學和免疫學方麵進行瞭深入的研究,取得瞭一定的進展,這對指導臨床診療十分重要.
자신면역성림파세포증생종합정(ALPS)시일충상염색체현성유전적림파세포장애성질병,환자이림파결화(혹)비장종대위주요표현,역병발림파류,단약능대기조기간예、정기수방,환자일반예후교호.해병주요유개도T림파세포조망적FAS등상관기인돌변소치,동시증강적세포증식신호여PI3K-AKT-mTOR도경야발휘중요작용,공동도치이쌍음성T세포(DNT)위대표적면역세포화이백세포개소10(IL-10)위대표적세포인자상계발생변화이치병.근년국내외대ALPS적발병궤제,우기시유전학화면역학방면진행료심입적연구,취득료일정적진전,저대지도림상진료십분중요.
Autoimmune lymphoproliferative syndrome (ALPS) is an autosomal dominant genetic disorder 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 patients have better prognosis.The disease is mainly caused by the mutations in FAS gene,which mediates the apoptosis of T lymphocyte.Enhanced cell proliferation signal,e.g.,PI3 K-AKT-mTOR pathway also plays a significant 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.
