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

TitlePrimary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis
Authors
KeywordsAllergy and immunology
Autoimmune diseases
Genetic diseases, X-linked
Immunologic deficiency syndromes
Issue Date2005
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2005, v. 11 n. 2, p. 90-96 How to Cite?
AbstractObjectives. 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.
Persistent Identifierhttp://hdl.handle.net/10722/53450
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorLam, DSTen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorHo, HKen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2009-04-03T07:20:07Z-
dc.date.available2009-04-03T07:20:07Z-
dc.date.issued2005en_HK
dc.identifier.citationHong Kong Medical Journal, 2005, v. 11 n. 2, p. 90-96en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/53450-
dc.description.abstractObjectives. 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.en_HK
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.en_HK
dc.subjectAllergy and immunologyen_HK
dc.subjectAutoimmune diseasesen_HK
dc.subjectGenetic diseases, X-linkeden_HK
dc.subjectImmunologic deficiency syndromesen_HK
dc.subject.meshImmunologic Deficiency Syndromes - diagnosis - geneticsen_HK
dc.subject.meshAutoimmune Diseases - immunologyen_HK
dc.subject.meshChromosomes, Human, Xen_HK
dc.subject.meshHypersensitivity - immunologyen_HK
dc.subject.meshLinkage (Genetics)en_HK
dc.titlePrimary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=11&issue=2&spage=90&epage=96&date=2005&atitle=Primary+immunodeficiency+in+Hong+Kong+and+the+use+of+genetic+analysis+for+diagnosisen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid15815061-
dc.identifier.scopuseid_2-s2.0-17444387998en_HK
dc.identifier.hkuros97660-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-17444387998&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume11en_HK
dc.identifier.issue2en_HK
dc.identifier.spage90en_HK
dc.identifier.epage96en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridLam, DST=55111896900en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridHo, HK=7401465257en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK

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