免疫缺陷病早期识别.ppt

1 * 1 * 2 * 3 * 4 * 7 * * So righr now, we actually have 4 centers in China working on PID. Hong Kong, the first one, two centers in Shanghai and our center in Chongqing. We used to send samples to Hong Kong for genetic diagnosis but due to the more and more strict regulations on nlood sample and DNA sample, we have to established our own setting to define some of the PIDs. Last year, We initiated a national collaborative study on common PIDs, agammaglobulinemia, hyper IgM, CGD and Wiskott-Altrich syndrome. In October this year, we’ll summarize .data and hopefully know the current status of diagnosis and treatment of these diseases. * Over the past years, in the frame of Chinese Pediatric Group, we have now established a number of websites for PID registry and education. This website was established by Prof. Yulung Lau from Hong kong University, this was established by us for spread knowledge on PID and this one set up by Prof. Wang from Fudan University her in Shanghai. We also hoist a annual school which aims to train 100 to 200 pediatricians and another 50 researchers working on PIDs. The funding is quite difficult because everybody says PID is rare, not a big problem. So we still have a long to go to make professionals and health administration aware of this field. 8 * 9 * 1 * 1 * 原发性免疫缺陷病的早期识别 * ppt课件 CASE1: 男性患儿，1岁3月，因“发热3天，呼吸急促半天”入院，入院时呼吸急促，50～60次/分,可见三凹征，心率170次/分，律齐，心音稍低钝。血压：80/40mmHg。血常规检查提示外周血WBC28×109 /L，中性为主，CRP:80mg/L，PCT5.8mg/L。以“肺炎、脓毒血症”收入PICU并给予抗感染支持对症治疗。病程第二天病情进行性加重发展为感染性休克，给予人工机械通气治疗。 既往史：生后多次感染病史（上感，中耳炎，鼻窦炎，肺炎）。 家族史：否认家族异常病史。患儿有5个姐姐，最大年龄12岁，最小5岁，均无类似病史。 疫苗接种史：尚未接种疫苗。 * ppt课件 CASE1 诊疗经过：血培养阳性，胸片提示肺炎。血清IgG水平0.5g/L，IgA、IgM水平极低查不出；AIDS抗体阴性；淋巴细胞免疫分型检查提示外周血CD3总T细胞数量正常，比例增高，CD4及CD8T淋巴细胞比例正常。CD19＋ B细胞缺如。继续给予抗感染，扩容、人工机械通气及支持对症治疗，病程第三天放弃治疗死亡。 问题1：该患儿原发病诊断？还需进行哪些有价值的检查？ 问题2：该患儿家族成员有哪些健康风险？ * ppt课件 由于免疫细胞或免疫分子缺陷而致免疫功能缺陷 基因突变：原发性免疫缺陷病(primary immunodeficiency, PID) 环境因素相关：继发性免疫缺陷病(Secondary immunodeficiency, SID)或免疫功能低下(immunocompro