Pediatria pre prax 6/2022
Adult patient with chronic inflammatory bowel disease and inborn error of immunity: hematopoietic stem cell transplantation as an option for curative treatment
Purpose: Inborn errors of immunity (IEI) – primary immunodeficiencies (PID) represent a dynamically developing field of medicine from the point of view of diagnosis and therapy. More than 21 000 genes have been identified in the human genome, and so far more than 485 genes involved in the development of PID have been identified. Clinical manifestations can be very diverse. In addition to recurrent respiratory infections, they can have the character of a non-specific inflammatory bowel disease (IBD), usually with a very early onset. The development of IBD symptoms before 6 years of age (very early onset IBD, VEO-IBD) is associated with a higher probability of being conditioned by a gene defect that results in impaired immune function or epithelial barrier function. At the same time, the course tends to be more severe and the response to conventional treatment less effective. Case report: In this work, we present the case report of an 18-year-old patient who, on the basis of therapeutically resistant inflammatory bowel disease, underwent a genetic examination and was diagnosed with a rare congenital immunodeficiency, XIAP (X-linked inhibitor of apoptosis protein) deficiency. As in the case of many other rare diseases, an international multidisciplinary council helped us to decide on the choice of therapeutic procedure, and after weighing all the risks, it was decided for the patient to undergo hematopoietic stem cell transplantation (HSCT). Significant advances in the field of hematopoietic cell transplantation over the last 20 years make it possible to apply such therapy also in the group of adolescents and older adults diagnosed with PID. The results of the studies show favorable results of overall survival after HSCT even at an older age. Early diagnosis is crucial for the development of complications. In selected cases, HSCT is also an option for adult patients in order to increase survival and improve quality of life.
Keywords: primary immunodeficiency, inflammatory bowel disease, hematopoietic stem cell transplantation, XIAP deficiency
