Inborn Errors of Immunity Among Pediatric Patients: A Retrospective Study from Southwestern Saudi Arabia

PURPOSE: Inborn errors of immunity (IEIs) represent a heterogeneous group of genetic conditions that predispose individuals to severe infections, autoimmunity, and malignancy. This study aimed to characterize the clinical, radiological, and genetic profiles of pediatric patients with IEIs at a single tertiary-care hospital in southwestern Saudi Arabia. PATIENTS AND METHODS: This retrospective study was conducted at the Abha Maternity and Children Hospital from January 2015 to December 2024. The medical records of 56 pediatric patients with IEIs (aged 1 month to 15 years) were reviewed. Data on epidemiological, clinical, radiological (chest radiographs and computed tomography scans), laboratory (complete blood counts and immunoglobulin levels), genetic, and outcome parameters were also extracted. RESULTS: in all CGD cases. Autosomal recessive SCID constituted 83% of SCID cases. Pulmonary complications were the leading cause of mortality, accounting for eight (44.4%) of the 18 deaths. CONCLUSIONS: This study highlights the distinct epidemiological, clinical, and genetic characteristics of pediatric IEIs in southwestern Saudi Arabia, which are characterized by a high prevalence of autosomal recessive disorders attributed to consanguinity. Complicated pneumonia emerged as a significant clinical challenge and the primary cause of mortality.