Background: Primary immunodeficiency disorders (PIDs) or inborn errors of immunity (IEI) are inherited disorders that impair the immune response in children. PIDs are much more common than it was previously estimated. Unfortunately, the majority of these patients remain undiagnosed and untreated. Objective: To assess the demography, clinical profiles, and sub-types of PID cases. Method: It was a retrospective study conducted in the pediatric rheumatology division of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from July 2012 to June 2020. All the diagnosed immune-deficient patients who fulfilled the inclusion criteria were included in this study. The PID patients were screened for CBC, serum immunoglobulin classes and subset of lymphocytes, including the T-B-NK cell markers, detected by flow cytometric analysis. Result: Among twenty-five PID cases included in this study, majority were antibody deficiency (40%) and combined immunodeficiency disorders (32%), followed by complement deficiencies, NK cell defect, and autoinflammatory disorders (CANDLE syndrome). Recurrent respiratory tract infection, ear infection, sinusitis and skin infection were the common clinical manifestations of this cohort. Late presentation and late diagnosis were found in almost every case. A comparison with PIDs reported from other countries showed that predominantly antibody deficiency cases were more common in those countries, but combined immunodeficiency was the most common (32%) sub-type in our country. Conclusion: Antibody deficiency and combined immune deficiency disorders were the predominant types of PIDs in this cohort. Late presentation and late diagnosis with different systemic infections in the disease course were observed.
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