医学免疫学课件：伴X染色体重度联合免疫缺陷

1、伴X染色体重度联合免疫缺陷缩写XSCID ：伴X染色体重度联合免疫缺陷IL-2RG ：白细胞介素-2受体亚基JAK ：双面神激酶STAT ：信号传导及转录激活因子细胞因子受体1型细胞因子受体： IL-9、IL-11、IL-13、IL-15、GM-CSF、G-CSF等2型细胞因子受体：IFN-，IFN-，IFN-等免疫球蛋白超家族受体：IL-1,IL-18，M-CSF，SCF等肿瘤坏死因子受体超家族：TNF，CD40，Fas等趋化因子受体家族：CXC，CC，C，CX3C等伴X染色体重度联合免疫缺陷病T细胞数量通常很低B细胞存在，但是不能正常发挥作用NK细胞数量很低，或者完全没有 白细胞介素2受体

2、亚基Meazza R, Azzarone B, Orengo AM, Ferrini S. Role of common-gamma chain cytokines in NK cell development and function: perspectives for immunotherapy. J Biomed Biotechnol. 2011; 2011: 861920. 白细胞介素2T细胞外周免疫耐受促进T细胞分化Chinen J, Puck JM. Successes and risks of gene therapy in primary immunodeficiencies.

3、 Journal of Allergy and Clinical Immunology. 2004;113(4):595604. 白细胞介素-7T细胞发育B细胞早期增殖、存活和免疫球蛋白基因重排肥大细胞生长因子Chinen J, Puck JM. Successes and risks of gene therapy in primary immunodeficiencies. Journal of Allergy and Clinical Immunology. 2004;113(4):595604. 白细胞介素-9白细胞介素-15调节NK细胞发育和记忆细胞稳态白细胞介素-4和21CD4+

4、T 细胞分化免疫球蛋白的调节与合成配体受体作用过程1. Kovanen PE, Leonard WJ. Cytokines and immunodeficiency diseases: critical roles of the gamma(c)-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways. Immunol Rev. 2004;202:6783.2. Rickert M., Wang X., Boulanger M. J., Goriatcheva N. & Garc

5、ia K. C. The structure of interleukin-2 complexed with its alpha receptor. Science 308, 14771480 (2005).JAK-STAT信号通路OShea JJ, Schwartz DM, Villarino AV, Gadina M, McInnes IB & Laurence A 2015 The JAK-STAT pathway: impact on human disease and therapeutic intervention. Annual Review of Medicine 66 311

6、328. 双面神激酶(JAK)Jak1，Jak2，Jak3和Tyk2Kiu H, Nicholson SE. Biology and significance of the JAK/STAT signalling pathways. Growth Factors. 2012; 30: 88106.信号传导及转录激活因子（STAT）STAT1, STAT2, STAT3, STAT4，STAT5 (STAT5A ，STAT5B), STAT6Kiu H, Nicholson SE. Biology and significance of the JAK/STAT signalling pathw

7、ays. Growth Factors. 2012; 30: 88106.JAK-STAT信号通路OShea JJ, Schwartz DM, Villarino AV, Gadina M, McInnes IB & Laurence A 2015 The JAK-STAT pathway: impact on human disease and therapeutic intervention. Annual Review of Medicine 66 311328. 细胞因子信号抑制因子SOCS1-7 和 CIS伴X染色体重度联合免疫缺陷的治疗骨髓移植基因治疗Chinen J, Puck JM. Successes and risks of