Crohn’s disease complicating a rare primary immunodeficiency in a pediatric patient: challenges in medical and surgical decision-making

Introduction. Primary immunodeficiency disorders (PID) are a group of congenital diseases caused by genetic defects that lead to diverse phenotypic manifestations. Classic inflammatory bowel diseases (IBD) are typically multifactorial pathologies, combining genetic predisposition, gut microbiota alterations, and adverse environmental influences. Very early-onset IBD (VEO-IBD), defined as a disease presenting before six years of age, accounts for 3–15% of all pediatric IBD. This subgroup is particularly characterized by monogenic etiology, associated with gastrointestinal phenotype PID and with causative mutations in specific genes. Case report. We present a clinical case of monogenic Crohn’s disease in a child with X-linked lymphoproliferative syndrome type 2 (XLP-2), treated using a multi-stage team approach. To achieve sustained remission, in addition to selecting conservative therapy, repeated surgical interventions and repeated hematopoietic stem cell transplantations were required. An individualized approach and treatment strategy planning enabled a positive treatment outcome. Conclusions. In young children with the presence of atypical IBD and refractoriness to standard therapy, it is crucial to differentiate monogenic forms of IBD. Such patients require close monitoring, dynamic follow-up, and a multidisciplinary approach involving collaboration between gastroenterologists, immunologists, and surgeons.