D S T Lam1, T L Lee, K W Chan, H K Ho, Y L Lau. 1. Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
Abstract
OBJECTIVES: To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. DESIGN: Retrospective study. SETTING: University teaching hospital, Hong Kong. PATIENTS: Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003. MAIN OUTCOME MEASURES: 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.
OBJECTIVES: To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. DESIGN: Retrospective study. SETTING: University teaching hospital, Hong Kong. PATIENTS: Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003. MAIN OUTCOME MEASURES: 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: Jung Woo Rhim; Kyung Hyo Kim; Dong Soo Kim; Bong Seong Kim; Jung Soo Kim; Chang Hwi Kim; Hwang Min Kim; Hee Ju Park; Ki Soo Pai; Byong Kwan Son; Kyung Sue Shin; Moo Young Oh; Young Jong Woo; Young Yoo; Kun Soo Lee; Kyung Yil Lee; Chong Guk Lee; Joon Sung Lee; Eun Hee Chung; Eun Hwa Choi; Youn Soo Hahn; Hyun Young Park; Joong Gon Kim Journal: J Korean Med Sci Date: 2012-06-29 Impact factor: 2.153
Authors: P Benjasupattananan; T Simasathein; P Vichyanond; V Leungwedchakarn; N Visitsunthorn; P Pacharn; O Jirapongsananuruk Journal: J Clin Immunol Date: 2009-01-28 Impact factor: 8.317