title: Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis.
abstract: OBJECTIVE
  To review the management of primary immunodeficiency and discuss recent advances in genetic analysis.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  University teaching hospital, Hong Kong.
  
  
  METHODS
  Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003.
  
  
  METHODS
  Demographic data, co-morbidities and treatment of patients, outcome and complications; identification of disease by genetic mutations.
  
  
  RESULTS
  Medical records of a total of 117 patients (72 male, 45 female) diagnosed with primary immunodeficiency in the Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong during the past 15 years (1988-2003) were reviewed. All patients were followed up in the immunology clinic. Some patients had been referred from the private sector or other hospitals for immunological workup. Six categories of primary immunodeficiency were identified: predominantly humoral defect (n=50), predominantly cellular defect (n=22), combined humoral and cellular defect (n=5), phagocytic defect (n=18), complement disorders (n=4), and others (n=18). Although infection was the underlying cause of most co-morbidities and mortality, autoimmune (n=7) and allergic (n=23) manifestations were common. In addition, three patients developed lymphoma. Recent advances in the genetic diagnosis of several types of primary immunodeficiency were also reviewed: X-linked Wiskott-Aldrich syndrome, X-linked chronic granulomatous disease, X-linked agammaglobulinaemia, X-linked lymphoproliferative syndrome, leukocyte adhesion disease type I, and X-linked hyperimmunoglobulin M syndrome. This provides an invaluable means of understanding the molecular basis of primary immunodeficiency and has important clinical applications.
  
  
  CONCLUSIONS
  Co-morbidities like autoimmune disease and allergic disease are common in patients with primary immunodeficiency and should be carefully evaluated. Likewise, a diagnosis of primary immunodeficiency should be considered when evaluating patients with these conditions. Rapid progress in the field of molecular genetics will enable definite and early diagnosis, and more importantly, potential curative therapy to be administered.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
authors.forename: D S T
authors.initials: DS
authors.lastname: Lam
authors.forename: T L
authors.initials: TL
authors.lastname: Lee
authors.forename: K W
authors.initials: KW
authors.lastname: Chan
authors.forename: H K
authors.initials: HK
authors.lastname: Ho
authors.forename: Y L
authors.initials: YL
authors.lastname: Lau
mesh_terms: D001327:Autoimmune Diseases / Q000276:immunology; D041321:Chromosomes, Human, X; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006967:Hypersensitivity / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D012189:Retrospective Studies