Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.

BACKGROUND X-linked agammaglobulinemia (XLA), also known as Bruton's agammaglobulinemia, is a rare genetic disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene. This defect leads to a substantial reduction in B cells and immunoglobulins, predisposing patients to recurrent severe infections. Early diagnosis and regular immunoglobulin replacement therapy are essential for effective disease management. CASE REPORT This report describes 2 male pediatric patients diagnosed with XLA at King Fahad Central Hospital in Jizan, Saudi Arabia. The first case involved a 14-month-old boy with recurrent respiratory infections, developmental delay, and frequent hospital admissions. Despite receiving immunoglobulin replacement therapy, his condition deteriorated due to poor treatment adherence, ultimately resulting in death. The second case involved a 3-year-old boy with recurrent respiratory infections and severe neutropenia. Genetic testing confirmed a BTK gene mutation. Consistent intravenous immunoglobulin therapy and close monitoring improved infection control and clinical stability, although he remained at risk for infections. CONCLUSIONS These cases emphasize the importance of early genetic diagnosis and strict adherence to immunoglobulin therapy in managing XLA. The differing outcomes underscore the critical role of treatment compliance in preventing severe complications and improving long-term prognosis. In regions with high consanguinity, genetic testing and family counseling are vital for early detection and optimal disease management.