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

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.published_or_final_versio

Sleep and mood disturbances during the COVID-19 outbreak in an urban Chinese population in Hong Kong : a longitudinal study of the second and third waves of the outbreak

202202 bcvcVersion of RecordNot mentionPublishe

Reversible encephalopathy induced by systemic high dose methotrexate

Therapy induced leukoencephalopathy is a known complication for children receiving high dose intravenous methotrexate. It may present as seizure or focal neurological deficit but fortunately the neurological deficits are often transient. We reported 2 local patients who had this complication and no gross persistent neurological complication were noted. From the literature and our experience, MRI is a more sensitive modality in picking up such complication and aminophylline may have a role as a prophylactic agent. A prospective study with appropriate neuropsychological assessment and long term follow-up on patients with this complication is needed to delineate the actual impact of this clinical phenomenon.link_to_subscribed_fulltex