| Abstract [eng] |
Author: Gintė Grubliauskaitė Supervisor: Prof. Dr. Jelena Rascon Keywords: primary immunodeficiency, inborn errors of immunity, haematopoietic stem cell transplantation, late complications, long-term outcomes. Aim: To identify and summarize late complications after allogeneic haematopoietic stem cell transplantation in children with primary immunodeficiencies. Objectives: 1. To perform a systematic review of scientific publications reporting late effects after allogeneic haematopoietic stem cell transplantation in children with primary immunodeficiencies. 2. To determine the frequency of late effects and analyze their profile. 3. To assess which factors are most frequently associated in the literature with the development of late complications. 4. To evaluate late complications in patients with primary immunodeficiencies who underwent allogeneic haematopoietic stem cell transplantation at the Centre of Paediatric Oncology and Haematology. Methods: A systematic literature review was performed in accordance with PRISMA guidelines. The study protocol was registered in the PROSPERO database (CRD42024621972, December 3, 2024). The literature search was conducted in the PubMed and EBSCOhost databases without publication date restrictions. All types of full-text scientific articles in English were eligible if they reported patients aged 0-17 years with primary immunodeficiencies treated with allogeneic haematopoietic stem cell transplantation and followed for at least 2 years after transplantation. In addition, a retrospective analysis was performed at the Centre of Paediatric Oncology and Haematology of Vilnius University Hospital Santaros Klinikos, including 20 children with primary immunodeficiencies who underwent 22 transplant procedures between 2010 and 2023. Results: Of 1142 identified publications, 29 studies were included in the final analysis. These studies described a total of 2273 patients who underwent transplantation between 1981 and 2019 and survived at least 2 years after transplantation. The most common diagnoses were severe combined immunodeficiency, Wiskott-Aldrich syndrome, chronic granulomatous disease, leukocyte adhesion deficiency, and other rare primary immunodeficiencies. At least one late effect was reported in 541 of 2273 patients (24%). The most frequently observed were growth and developmental disorders, which occurred in 12% (n = 278) and were reported in 20 of 29 studies. Other commonly reported late complications included neurological complications (n = 172; 8%), autoimmune and hematological disorders (n = 156; 7%), pulmonary (n = 156; 7%), and skin complications (n = 149; 7%). In the Santaros Klinikos cohort, late effects were assessed in 16 patients who survived at least two years after transplantation. The most frequent complications were endocrine disorders (n = 7; 44%), followed by neurological and cognitive complications in 6 patients (38%), pulmonary and cardiovascular complications in 5 patients (31%), and renal or hepatic dysfunction in 3 patients (19%). Conclusions: Although allogeneic haematopoietic stem cell transplantation has significantly improved survival in children with primary immunodeficiencies, a substantial burden of late complications remains, affecting 24% of patients in the long term. Long-term multidisciplinary follow-up is essential for this patient population. |
