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.
Highlights
Primary immunodeficiency diseases (PIDs) are under-reported in Malaysia
The PICO statement was as follows: P, patients with PID in Malaysia; I, none considering looking into the epidemiology and prevalence study; C, other neighboring Southeast Asian countries and O, prevalence and incidence rates
Two adult patients were reported to have PID (17), whereas the remaining aged between the 1st month of life and 17 years
Summary
Primary immunodeficiency diseases (PIDs) are under-reported in Malaysia. Primary immunodeficiency diseases (PIDs) or inborn errors of immunity are inherited disorders that impair the immune response, leading to increased risk of infections, immune dysregulation, autoimmune phenomena, inflammation, and malignancy. They are classified as “rare diseases,” but their global incidence is more prevalent than generally thought (1). Six million people are estimated to be living with PIDs worldwide, of which only 27,000–60,000 have been diagnosed (2). Malaysia is a small country situated in Southeast Asia, with a total population of 32.6 million; the total livebirths in 2018 was 501.9 thousand, and the GDP per capita is 10,940 USD. The under-5 mortality rate was 7.8 deaths per 1,000 live births in 2018 (3)
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