醫(yī)學(xué)免疫學(xué)課件：伴X染色體重度聯(lián)合免疫缺陷

1、伴X染色體重度聯(lián)合免疫缺陷縮寫XSCID ：伴X染色體重度聯(lián)合免疫缺陷IL-2RG ：白細(xì)胞介素-2受體亞基JAK ：雙面神激酶STAT ：信號(hào)傳導(dǎo)及轉(zhuǎn)錄激活因子細(xì)胞因子受體1型細(xì)胞因子受體： IL-9、IL-11、IL-13、IL-15、GM-CSF、G-CSF等2型細(xì)胞因子受體：IFN-，IFN-，IFN-等免疫球蛋白超家族受體：IL-1,IL-18，M-CSF，SCF等腫瘤壞死因子受體超家族：TNF，CD40，F(xiàn)as等趨化因子受體家族：CXC，CC，C，CX3C等伴X染色體重度聯(lián)合免疫缺陷病T細(xì)胞數(shù)量通常很低B細(xì)胞存在，但是不能正常發(fā)揮作用NK細(xì)胞數(shù)量很低，或者完全沒有 白細(xì)胞介素2受體

2、亞基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. 白細(xì)胞介素2T細(xì)胞外周免疫耐受促進(jìn)T細(xì)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. 白細(xì)胞介素-7T細(xì)胞發(fā)育B細(xì)胞早期增殖、存活和免疫球蛋白基因重排肥大細(xì)胞生長因子Chinen J, Puck JM. Successes and risks of gene therapy in primary immunodeficiencies. Journal of Allergy and Clinical Immunology. 2004;113(4):595604. 白細(xì)胞介素-9白細(xì)胞介素-15調(diào)節(jié)NK細(xì)胞發(fā)育和記憶細(xì)胞穩(wěn)態(tài)白細(xì)胞介素-4和21CD4+

4、T 細(xì)胞分化免疫球蛋白的調(diào)節(jié)與合成配體受體作用過程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信號(hào)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. 雙面神激酶(JAK)Jak1，Jak2，Jak3和Tyk2Kiu H, Nicholson SE. Biology and significance of the JAK/STAT signalling pathways. Growth Factors. 2012; 30: 88106.信號(hào)傳導(dǎo)及轉(zhuǎn)錄激活因子（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信號(hào)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. 細(xì)胞因子信號(hào)抑制因子SOCS1-7 和 CIS伴X染色體重度聯(lián)合免疫缺陷的治療骨髓移植基因治療Chinen J, Puck JM. Successes and risks of