Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979–2020

Abstract

Introduction: Primary immunodeficiency diseases (PIDs) are under-reported in Malaysia. The actual disease frequency of PID in this country is unknown due to the absence of a national patient registry for PID. Objective: This systematic review aimed to determine the prevalence rates of PID cases diagnosed and published in Malaysia from 1st of January 1979 until 1st of March 2020. It also aimed to describe the various types of PIDs reported in Malaysia. Method: Following the development of a comprehensive search strategy, all published literature of PID cases from Malaysia was identified and collated. All cases that fulfilled the International Union of Immunological Societies (IUIS) classification diagnosis were included in the systematic review. Data were retrieved and collated into a proforma. Results: A total of 4,838 articles were identified and screened, with 34 publications and 119 patients fulfilling the criteria and being included in the systematic review. The prevalence rate was 0.37 per 100,000 population. In accordance with the IUIS, the distribution of diagnostic classifications was immunodeficiencies affecting cellular and humoral immunities (36 patients, 30.3%), combined immunodeficiencies with associated or syndromic features (21 patients, 17.6%), predominant antibody deficiencies (24 patients, 20.2%), diseases of immune dysregulation (13 patients, 10.9%), congenital defects in phagocyte number or function (20 patients, 16.8%), defects in intrinsic and innate immunity (4 patients, 3.4%), and autoinflammatory disorders (1 patient, 0.8%). Parental consanguinity was 2.5%. Thirteen different gene mutations were available in 21.8% of the cases. Conclusion: PIDs are underdiagnosed and under-reported in Malaysia. Developing PID healthcare and a national patient registry is much needed to enhance the outcome of PID patient care.

Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia’s experience over 26 years

“…2 Department of Paediatrics, UKM, Kuala Lumpur, Malaysia. 3 Pantai Hospital, Kuala Lumpur, Malaysia. 4 Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia.…”

“…A study in the United States (US) estimated the incidence of CGD is between 1 in 200,000 to 1 in 250,000 live births [ 2 ]. A systematic review on published primary immunodeficiency disease (PID) in Malaysia showed that CGD was the third most common reported form of PID, which is comparable with Singapore’s PID cohort [ 3 ]. Chronic granulomatous disease cases in Malaysia were first reported in 1994 diagnosed in two unrelated boys [ 4 ] based on nitroblue tetrazolium dye test (NBT) and chemiluminescence assay (CA); and this would have been the first report from South East Asia (SE Asia).…”

“…Chronic granulomatous disease cases in Malaysia were first reported in 1994 diagnosed in two unrelated boys [ 4 ] based on nitroblue tetrazolium dye test (NBT) and chemiluminescence assay (CA); and this would have been the first report from South East Asia (SE Asia). Few countries in SE Asia (Malaysia, Singapore and Thailand) have published reports of case series of PID which included CGD [ 3 – 7 ]. This report would be the first patient series in SE Asia, revealing some inherent differences in the clinical and demographic patterns from the Europe, America and Asia [ 2 , 8 – 10 , 18 ]…”

Population pharmacokinetic modelling of intravenous immunoglobulin in patients with predominantly antibody deficiencies

“…There have been several case reports 11–15 and a clinical epidemiology study 4 of PID in this country. A very recent article has reported that the prevalence of PID in Malaysia was 0.37 per 100 000 population 16 . This rate was very much lower than the published rates in other countries, which range from 4.4 to 20.27 per 100 000 population.…”

Clinical and Demographic Pattern of Chronic Granulomatous Disease (CGD) from a Multicenter Perspective: Malaysia’s Experience Over 26 Years

“…Chronic granulomatous disease cases in Malaysia were rst reported in 1994 that was diagnosed in two unrelated boys [4] based on nitroblue tetrazolium dye test (NBT) and chemiluminescence assay (CA) which would have been the earliest patient reported from South East Asia (SE Asia). Few countries in SE Asia (Malaysia, Singapore and Thailand) have published reports of case series of PID which included CGD [3][4][5][6][7]. This report would be the earliest patient series in SE Asia, revealing some inherent differences in the clinical and demographic patterns from the Europe, America or Asia (8,9) Methods Malaysia Primary Immunode ciency Network (MyPIN) is a collaborative network of clinical immunologists, immunopathologists, scientists and general pediatrician/physicians managing primary immunode ciency patients in both government and academic institutions.…”