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Primary immunodeficiency in Hong Kong and the
use of genetic analysis for diagnosis
DST Lam, TL Lee, KW Chan,
HK Ho, YL Lau
Department of Paediatrics and Adolescent Medicine, University of
Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
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.
Hong Kong Med J 2005;11:90-6
Key words: Allergy and immunology; Autoimmune diseases;
Genetic diseases, X-linked; Immunologic deficiency syndromes
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