细胞毒性T细胞相关蛋白4(CTLA-4)的主要生物学功能是下调T细胞反应,抑制免疫应答,而其突变会引起一系列免疫相关的异常。本例报道了1例由CTLA4 Exon2 c. 151C>T突变导致,以淋巴细胞增生、免疫性溶血、反复感染等类似自身免疫性淋巴...细胞毒性T细胞相关蛋白4(CTLA-4)的主要生物学功能是下调T细胞反应,抑制免疫应答,而其突变会引起一系列免疫相关的异常。本例报道了1例由CTLA4 Exon2 c. 151C>T突变导致,以淋巴细胞增生、免疫性溶血、反复感染等类似自身免疫性淋巴细胞增生综合征表现起病的罕见病例,对患儿进行家系验证,明确了基因突变的来源,通过文献学习CTLA4的致病机制及治疗新进展,并对于患儿的后续治疗进行了展望。展开更多
Immunological tolerance to self is essential for maintaining the integrity of the organ systems, and its breakdown may lead to the development of autoimmune diseases. Tolerance to self is maintained through several me...Immunological tolerance to self is essential for maintaining the integrity of the organ systems, and its breakdown may lead to the development of autoimmune diseases. Tolerance to self is maintained through several mechanisms, which include negative selection, functional inactivation (anergy) and suppression of autoreactive lymphocytes. However, only negative selection permanently removes autoreactive cells through apoptosis. While it has long been known that negative selection requires a T cell receptor (TCR) signal, it is unclear whether a death ligand signal is also involved. TRAIL, the tumor necrosis factor (TNF)-related apoptosis-inducing ligand, is a newly described member of the TNF family. Unlike other death ligands展开更多
文摘细胞毒性T细胞相关蛋白4(CTLA-4)的主要生物学功能是下调T细胞反应,抑制免疫应答,而其突变会引起一系列免疫相关的异常。本例报道了1例由CTLA4 Exon2 c. 151C>T突变导致,以淋巴细胞增生、免疫性溶血、反复感染等类似自身免疫性淋巴细胞增生综合征表现起病的罕见病例,对患儿进行家系验证,明确了基因突变的来源,通过文献学习CTLA4的致病机制及治疗新进展,并对于患儿的后续治疗进行了展望。
文摘Immunological tolerance to self is essential for maintaining the integrity of the organ systems, and its breakdown may lead to the development of autoimmune diseases. Tolerance to self is maintained through several mechanisms, which include negative selection, functional inactivation (anergy) and suppression of autoreactive lymphocytes. However, only negative selection permanently removes autoreactive cells through apoptosis. While it has long been known that negative selection requires a T cell receptor (TCR) signal, it is unclear whether a death ligand signal is also involved. TRAIL, the tumor necrosis factor (TNF)-related apoptosis-inducing ligand, is a newly described member of the TNF family. Unlike other death ligands
