Population record
Saudi Arabia · 2 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Inborn Errors of Immunity Among Pediatric Patients: A Retrospective Study from Southwestern Saudi Arabia. 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. The medical records of 56 pediatric patients with IEIs (aged 1 month to 15 years) were reviewed. RESULTS: The cohort of 56 patients frequently presented with Severe Combined Immunodeficiency (SCID) (28.6%), Chronic Granulomatous Disease (CGD) (16.1%), and Predominantly Antibody Deficiencies (PAD) (14.3%), all demonstrating high consanguinity rates (94% in SCID and 100% in CGD). 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.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD.” | 0.95 | saudi_context_rules_v1 |