Distribution, Clinical Features and Molecular Analysis of Primary Immunodeficiency Diseases in Chinese Children A Single-center Study From 2005 to 2011
Distribution, Clinical Features and Molecular Analysis of Primary Immunodeficiency Diseases in Chinese Children A Single-center Study From 2005 to 2011
复制标题
DOI：
10.1097/inf.0b013e31829aa9e9
复制
发表时间：
2013-10-01
影响因子：
3.6
通讯作者：
Zhao, Xiao-Dong
中科院分区：
文献类型：
--
作者：
Zhang, Zhi-Yong;An, Yun-Fei;Zhao, Xiao-Dong
方法：2005年1月至2011年12月，从197个无亲缘关系家庭中招募了233名遗传证实的原发性免疫缺陷疾病（pid）患儿。结果：根据国际免疫学会联合会制定的标准，79例患者被诊断为其他明确的免疫缺陷综合征（38.9%），62例（30.6%）为主要抗体缺陷，26例（12.8%）为先天性吞噬细胞缺陷，25例（12.3%）为T细胞和b细胞免疫缺陷，11例（5.4%）为免疫失调疾病。中位诊断时间为27.9个月，患者有广泛的临床表现。共鉴定出23个致病基因，检测到213个突变，其中新突变42个。结论：随着对PID的认识和诊断能力的提高，更多的PID患者将被诊断出来，我们将能够更准确地识别PID在世界上人口最多的国家的频率和分布。
Methods: Two hundred three children with genetically proven primary immunodeficiency diseases (PIDs) from 197 unrelated families were enrolled from January 2005 to December 2011.Results: On the basis of criteria developed by the International Union of Immunological Societies, 79 patients were diagnosed as other well-defined immunodeficiency syndromes (38.9%), 62 (30.6%) with predominant antibody deficiencies, 26 (12.8%) with congenital defects of phagocyte, 25 (12.3%) with T- and B-cell immunodeficiency and 11 (5.4%) with diseases of immune dysregulation. The median time to the diagnosis was 27.9 months and the patients had a wide range of clinical presentations. In addition, a total of 23 pathogenic genes were identified and 213 mutations were detected, including 42 novel mutations.Conclusions: With the increase in the awareness of PIDs and diagnostic competence, more PID patients will be diagnosed and we will be able to more accurately identify the frequency and the distribution of PIDs in the most populous country in the world.