title: Distribution, clinical features and molecular analysis of primary immunodeficiency diseases in Chinese children: a single-center study from 2005 to 2011.
abstract: 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.
authors.affiliation: From the Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, China.
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Yun-Fei
authors.initials: YF
authors.lastname: An
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Jiang
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Da-Wei
authors.initials: DW
authors.lastname: Liu
authors.forename: Jing-Wen
authors.initials: JW
authors.lastname: Xie
authors.forename: Xue-Mei
authors.initials: XM
authors.lastname: Tang
authors.forename: Mo
authors.initials: M
authors.lastname: Wang
authors.forename: Xi-Qiang
authors.initials: XQ
authors.lastname: Yang
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zhao
mesh_terms: D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D007223:Infant; D008297:Male; D012189:Retrospective Studies