The Saudi Journal of Medical Insights

Pediatric autoimmune disorders represent a diverse group of conditions characterized by loss of immune tolerance, leading to chronic inflammation and organ damage. Their incidence has risen globally over the past three decades, yet diagnostic delays and suboptimal long-term outcomes remain common. This review provides a comprehensive overview of the epidemiology, pathogenesis, clinical phenotypes, diagnostic biomarkers, current pharmacological management, long-term outcomes, and future directions of major pediatric autoimmune disorders, including juvenile idiopathic arthritis (JIA), pediatric-onset systemic lupus erythematosus (pSLE), type 1 diabetes (T1D), juvenile dermatomyositis (JDM), and autoimmune hepatitis (AIH). The global prevalence of pediatric autoimmune diseases is approximately 4.5-5.0%, with JIA being the most common (16-150 per 100,000 children). pSLE, though rarer (0.34-0.89 per 100,000), presents with more severe organ involvement, including lupus nephritis in 67% of children. T1D incidence rises by 3.4% annually, and DKA at diagnosis occurs in 25-40% of children. Pathogenesis involves HLA and non-HLA genetic variants (e.g., PTPN22, STAT4) interacting with environmental triggers (viral infections, gut dysbiosis, vitamin D deficiency). Diagnosis relies on autoantibody panels (ANA, anti-dsDNA, islet autoantibodies, myositis-specific antibodies), imaging, and histopathology. Management has evolved from conventional DMARDs (methotrexate) to biologic agents (TNF inhibitors, IL-1/IL-6 blockers, belimumab, teplizumab). Pediatric autoimmune disorders are increasingly common, carry substantial long-term morbidity, and often require early, aggressive, and individualized treatment approaches. Biologic therapies have improved outcomes, but unmet needs remain in biomarker validation, safe treatment withdrawal, and equitable access to care.