Professor University of Pretoria Pretoria, Gauteng, South Africa
Abstract Text:
Introduction: South Africa has a high burden of infectious diseases, especially respiratory infections. Primary immunodeficiency disease/inborn errors of immunity (IEIs) have been overshadowed by secondary causes, such as HIV. In contrast to HIV, there is no coordinated service to diagnose and manage IEIs in the country.
Methods: A new pediatric pulmonology referral service for children with problematic airway infection was established in 2023 in Pretoria, South Africa. A retrospective audit was performed of all the files opened between January and December 2023.
Results: A total of 145 patients were seen. The median age was 7 (IQR 5 – 12) years and 65% were male. The primary referral diagnosis was recurrent sinopulmonary (68%), upper respiratory tract (16%), and multisystem (8%) infections. Secondary complaints were mostly allergic (35%), ranging from asthma, allergic rhinitis, and eczema. No patients had HIV or cystic fibrosis. IEI was diagnosed in 58% of cases. Of the IEIs, combined variable immunodeficiency (33%) and specific antibody deficiency (31%) were the most common, followed by transient hypogammaglobulinemia of infancy (14%) and chronic granulomatous disease (6%). Secondary immunodeficiency (8%) was mostly caused by repeated use of oral cortisone (80%). A genetic diagnosis was obtained in 23% of patients.
Conclusion: We found a high prevalence of IEI in a pulmonary service in South Africa where IEI is known to be underreported. These data raise concerns about the lack of awareness, diagnostic capacity and access to genetic testing in the country.
