Akademik Veri Yönetim Sistemi
Turkish Journal of Immunology, cilt.13, sa.2, ss.69-79, 2025 (ESCI)
Inborn errors of immunity (IEI) are a heterogeneous group of disorders characterized by im-munodeficiency and immune dysregulation. Common variable immunodeficiency (CVID) is the most frequently encountered symptomatic IEI. Patients with IEI are at risk for both infectious and non-infectious complications. Recurrent sinopulmonary infections, especially those caused by encapsulated bacteria, are often the first clinical sign. However, many patients also develop non-infectious complications, including autoimmunity, splenomegaly, chronic lung disease, enteropathy, granuloma formation, and malignancies, which significantly contribute to morbidity and mortality. Immunoglobulin replacement therapy is the primary treatment for CVID, effectively reducing infections and infection-related mortality; however, it has limited efficacy on non-infectious complications. Among these, gastrointestinal (GI) complications are particularly common and significantly impair quality of life. Gastrointestinal involvement in CVID is reported in 9% to 34% of cases. Non-infectious GI complications may involve any part of the GI tract, are highly variable in severity, and are associated with increased mortality. Common symptoms include diarrhea, bloating, and abdominal pain. Gastrointestinal involvement can resemble other diseases such as inflammatory bowel disease, celiac disease, or collagenous colitis. The pathogenesis of CVID enteropathy is complex, involving immune dysregulation, microbiota alterations, genetics, malignancy, and infections. Th1-driven inflammation plays a central role, contributing to chronic gastrointestinal symp-toms. While no standardized definition exists, GI disease in CVID is generally identified by excluding infectious causes and integrating clinical and histopathological findings. Reduced or absent plasma cells in the lamina propria, nodular lymphoid hyperplasia, and intraepi-thelial lymphocytosis are frequent histologic findings. Currently, no established treatment guidelines exist for non-infectious complications. Expert consensus favors a personalized, stepwise, multidisciplinary approach, with steroids as first-line therapy and biologic agents considered in steroid-dependent cases. In this review, we aimed to examine the various as-pects of GI tract manifestations in adult patients with CVID, with a focus on non-infectious complications.