Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis

Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine (Impact Factor: 0.87). 05/2005; 11(2):90-6.
Source: PubMed


To review the management of primary immunodeficiency and discuss recent advances in genetic analysis.
Retrospective study.
University teaching hospital, Hong Kong.
Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003.
Demographic data, co-morbidities and treatment of patients, outcome and complications; identification of disease by genetic mutations.
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.
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.

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    • "The spectrum of PID in Korea is similar to that of other Asian countries (Table 5) (4-7). In this study, antibody deficiency was seen in nearly one half of the patients, which is consistent with other studies (4-14). "
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    ABSTRACT: This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.
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    • "Brazil reported 50 cases of deficiency complement, followed by 13 reports of Argentina (Leiva et al., 2007). Like others studies, predominantly antibody deficiency was the principal PID observed in Latin America, Australia (Baumgart et al., 1997; Kirkpatrick et al., 2007), China (Zhao et al., 2006; Wang et al., 2011), Egypt (Reda et al., 2009), French (CEREDIH, 2010), Hong Kong (Lam et al., 2005), Iran (Aghamohammadi et al., 2002; Farhoudi et al., 2005; Rezaei et al., 2006), Italy (Luzi et al., 1983), Kuwait (Al- Herz, 2008), Netherland (Zegers et al., 1994), Norway (Stray-Pedersen et al., 2000), Poland (Bernatowska et al., 1998), Republic of Ireland (Abuzakouk et al., 2005), Spain (Matamoros et al., 1997; Milá et al., 2001), Swiss (Ryser et al., 1998), Taiwan (Lee et al., 2011), Thailand (Benjasupattananan et al., 2009), Tunisia (Bejaoui et al., 1997) and USA (Javier et al., 2000; Stiehm, 2007), Studies in other countries reveled major number of granulocyte dysfunction in India (Verma et al., 2008), and Combined T-and B-cell Immunodeficiency in Turk (Shabestari et al., 2007). "

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    ABSTRACT: We reviewed retrospectively 7 Chinese children diagnosed with Wiskott-Aldrich syndrome (WAS) and managed at the Department of Paediatrics & Adolescent Medicine of Queen Mary Hospital from 1988 to 2005. All patients presented with the classical triad of bleeding tendency, recurrent infections and infantile eczema from neonatal period to 2-3 months of age. The median lag time between diagnosis and presentation was 7 months. Thrombocytopenia and small platelet volume were consistent findings and present in all patients. Findings in immunoglobulin level, lymphocyte subset and lymphocyte proliferative studies were heterogeneous. Four mutations were found in 5 (2 cousins shared the same mutation). Haematopoietic stem cell transplant (HSCT) had been performed for all patients. All 7 had complete immune reconstitution with no major long-term complications in a median follow-up of 9.3 years. Early diagnosis and selection of appropriate donor for HSCT were important strategies for improved survival of patients with WAS.
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