CD3δdeficiency is a recently identified rare form of severe combined immunode ficiency. We analysed the CD3δgene in a Japanese family with severe combined im munodeficiency. The patients lacked T-cells with normal n...CD3δdeficiency is a recently identified rare form of severe combined immunode ficiency. We analysed the CD3δgene in a Japanese family with severe combined im munodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A→G) in these patients. Analy sis of patients’mononuclear cells revealed the CD3δsplicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these pat ients. Conclusion:The CD3δgene should be analysed in patients with severe combi ned immunodeficiency lacking T-cells with normal B-and natural killer cells ir respective of the thymus size.展开更多
目的探讨早期银屑病关节炎患者自然杀伤(natural killer,NK)细胞及CD3细胞与疾病进展的关系及临床价值。方法选择在湖北医药学院附属人民医院风湿免疫科诊治的银屑病关节炎患者72例作为病例组,选择在体检中心体检合格的健康人72例作为...目的探讨早期银屑病关节炎患者自然杀伤(natural killer,NK)细胞及CD3细胞与疾病进展的关系及临床价值。方法选择在湖北医药学院附属人民医院风湿免疫科诊治的银屑病关节炎患者72例作为病例组,选择在体检中心体检合格的健康人72例作为对照组,采用流式细胞仪检测两组入选者的NK细胞及CD3细胞.对入选者展开皮疹面积及皮疹严重程度评分(psoriasis area and severity index,PASI),记录疾病进展状况并进行相关性分析。结果与对照组相比,病例组的淋巴细胞亚群中NK细胞[(14.59±3.14)%比(10.49±4.11)%]与CD3细胞[(33.94±6.13)%比(18.44±5.29)%]比例显著降低(t值分别为6.393,11.832,P值均<0.05)。病例组的PASI评分显著高于对照组[(43.11±5.39)比(11.39±5.01);t=14.592,P<0.05]。相关分析结果显示病例组患者NK细胞、CD16细胞比例与PASI评分呈现显著负相关性(r值分别为-0.409,-0.382,P<0.05)。结论早期银屑病关节炎患者都表现为NK细胞及CD3细胞低表达状况,与患者的疾病进展存在相关性,有利于指导在临床上进行早期病情判断。展开更多
文摘CD3δdeficiency is a recently identified rare form of severe combined immunode ficiency. We analysed the CD3δgene in a Japanese family with severe combined im munodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A→G) in these patients. Analy sis of patients’mononuclear cells revealed the CD3δsplicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these pat ients. Conclusion:The CD3δgene should be analysed in patients with severe combi ned immunodeficiency lacking T-cells with normal B-and natural killer cells ir respective of the thymus size.
文摘目的探讨早期银屑病关节炎患者自然杀伤(natural killer,NK)细胞及CD3细胞与疾病进展的关系及临床价值。方法选择在湖北医药学院附属人民医院风湿免疫科诊治的银屑病关节炎患者72例作为病例组,选择在体检中心体检合格的健康人72例作为对照组,采用流式细胞仪检测两组入选者的NK细胞及CD3细胞.对入选者展开皮疹面积及皮疹严重程度评分(psoriasis area and severity index,PASI),记录疾病进展状况并进行相关性分析。结果与对照组相比,病例组的淋巴细胞亚群中NK细胞[(14.59±3.14)%比(10.49±4.11)%]与CD3细胞[(33.94±6.13)%比(18.44±5.29)%]比例显著降低(t值分别为6.393,11.832,P值均<0.05)。病例组的PASI评分显著高于对照组[(43.11±5.39)比(11.39±5.01);t=14.592,P<0.05]。相关分析结果显示病例组患者NK细胞、CD16细胞比例与PASI评分呈现显著负相关性(r值分别为-0.409,-0.382,P<0.05)。结论早期银屑病关节炎患者都表现为NK细胞及CD3细胞低表达状况,与患者的疾病进展存在相关性,有利于指导在临床上进行早期病情判断。
