TITLE:
Infections and Inborn Errors of Immunity in Children
AUTHORS:
Indou Deme/Ly, Ibrahima Diop, Yaye Joor Dieng, Latitia Tchango, Awa Kane, Aminata Mbaye, Mame Sokhna Gueye, Yaye Fatou Mbodj Diop, Ginette Ndong, Maîmouna Diallo, Fatoumata Fofana/Diouf, Mame Betty Diop, Abou Ba, Babacar Niang, Aliou Thiongane, Idrissa Demba Ba, Papa Moctar Faye, Amadou Lamine Fall, Ibrahima Diagne I, Ousmane Ndiaye
KEYWORDS:
Infections, Children, Inborn Errors of Immunity (IEI)
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.16 No.2,
February
4,
2026
ABSTRACT: Introduction: Inborn errors of immunity (IE) are rare genetic disorders that cause immune dysfunction. In Africa, they are underdiagnosed due to a lack of awareness, the scarcity of specialists in this field, and the difficulty of diagnosis. They are associated with atypical infections, autoinflammation, autoimmunity, and neoplasms. In children, infections are often the presenting symptoms or a concerning complication due to their severity and frequent recurrence. Our objective was to describe the profile of these infections in children with IE followed in a pediatric hospital. Patients and Methods: We conducted a retrospective descriptive and analytical study of children followed for inborn errors of immunity. We included those who followed from February 2016 to September 2025, aged under 16 years, and who had experienced at least one infectious episode. Sociodemographic, clinical, biological, microbiological, and outcome data were collected from medical records and analyzed using SPSS 27. Results: Of the 44 children followed for inborn errors of immunity (IE) during our study period, 33 had experienced at least one infectious episode, representing a frequency of 75%. However, infection was documented in 25 children. The mean age of the children was 9 ± 5 years, with a slight female predominance (51.5%). A total of 140 infectious episodes were recorded, with the most frequent sites being cutaneous and pulmonary. Cytobacteriological examination of pus was the most frequently requested microbiological analysis (22.6%). The main pathogens isolated were Staphylococcus aureus, Mycobacterium tuberculosis, Candida albicans, Candida tropicalis, and Trichophyton rubrum. The most common inborn errors of immunity that cause infections were Wiskott-Aldrich syndrome, hyper-IgE syndrome (HIES), and epidermodysplasia verruciformis. Anti-infective treatment consisted primarily of antibiotics and antifungals. Prevention of recurrent infections was achieved with cotrimoxazole prophylaxis. Conclusion: In our study, skin and respiratory infections were the most frequent. Their origin was primarily fungal and bacterial. The most common inborn errors of immunity were Wiskott-Aldrich syndrome, hyper-IgE syndrome, and epidermodysplasia verruciformis, hence the need for their prevention.