Introduction

The need to establish inborn errors of immunity (IEI) database arose from the recognition that IEI existed in Malaysia, beginning in 1977, followed by more reports a decade later. As awareness grew, it became necessary to develop a database to systematically capture IEI data to support planning, monitoring, and improvement of patient care in this emerging area of clinical medicine in Malaysia.

Materials and Methods

Patients were managed at participating hospitals under the care of clinical immunologists. Each patient underwent a comprehensive clinical assessment, including evaluation of relevant clinical features and immunological laboratory investigations at selected centres. In 2007, a database, the Malaysian Primary Immunodeficiency Network (MyPIN) Registry, was established to collate and store this information.

Results

Of 423 cases referred to immunologist-led clinics, 300 were identified as IEI, giving an estimated prevalence of 0.95 per 100,000 population. Defects in cellular immunity, including combined immunodeficiencies and well-defined combined immunodeficiency syndromes, were the most frequent (44.7%), followed by predominantly antibody immunodeficiencies (PAD) (30.7%) and phagocytic defects (12.3%). Males outnumbered females with a ratio of 1.75:1, and 24.0% of patients had a positive family history. Indigenous populations accounted for 4.0% of IEI cases. Increased clinical immunology expertise had improved diagnosis and treatment, with a marked rise in case detection as more clinical immunologists joined hospital services, especially during the later part of the third decade.

Conclusion

In developing countries where awareness of IEI remains limited, the establishment of a database managed by clinical immunology experts can play an important role in improving strategies for the diagnosis and care of patients with IEI.

Keywords

Primary immunodeficiency, Inborn errors of immunity, Clinical immunology, Registry, Epidemiology, Malaysia

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