Haematopoietic stem cell transplantation in children with inborn errors of immunity: A single centre experience

• Published in: Scandinavian journal of immunology Vol. 101; no. 1; pp. e13431 - n/a
• Main Authors: Arman Bilir, Özlem, Karaatmaca, Betül, Ok Bozkaya, İkbal, Kanbur, Şerife Mehtap, Kaçar, Dilek, Metin, Ayşe, Özbek, Namık Yaşar
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.01.2025
• Subjects: Adolescent; Child; Child, Preschool; Congenital defects; Diagnosis; Female; Follow-Up Studies; Graft vs Host Disease - immunology; haematopoietic stem cell transplantation; Hematopoietic Stem Cell Transplantation - methods; Hematopoietic stem cells; Humans; Immunity; Immunodeficiency; Immunologic Deficiency Syndromes - immunology; Immunologic Deficiency Syndromes - therapy; inborn errors of immunity; Infant; Infant, Newborn; Male; paediatric; Pediatrics; primary immune dysregulation disorders; Primary immunodeficiencies; Primary Immunodeficiency Diseases - immunology; Primary Immunodeficiency Diseases - therapy; Quality of Life; Retrospective Studies; severe combined immunodeficiencies; Stem cell transplantation; Treatment Outcome; inborn errors of immunity; primary immune dysregulation disorders; severe combined immunodeficiencies; haematopoietic stem cell transplantation; paediatric
• ISSN: 0300-9475; 1365-3083; 1365-3083
• DOI: 10.1111/sji.13431

This study retrospectively analyzed the outcomes of 61 pediatric patients with inborn errors of immunity (IEI) who underwent hematopoietic stem cell transplantation (HSCT) between 2011 and 2023. Patients were categorized into primary immunodeficiency disorders (PIDD), primary immune dysregulation disorders (PIRD), and congenital defects of phagocyte number or function (CDP). Median ages at diagnosis and HSCT were 9 and 30 months, respectively. With a median follow‐up of 51 months, the overall survival (OS) was 70%, with a 100‐day post‐transplant OS of 80%. Transplant‐related mortality (TRM) was 29%, with rates of 42%, 22.5%, and 27% for PIRD, PIDD, and CDP, respectively. This study highlights the importance of early diagnosis and HSCT in improving survival for IEI patients, while also emphasizing the need for continuous improvements in transplant protocols to minimize TRM and enhance quality of life. Haematopoietic stem cell transplantation is a life‐saving treatment for patients with inborn errors of immunity. This study investigated the survival rates and outcomes of IEI patients who underwent HSCT at a single centre. The overall survival rate for the cohort was 70%. The most common post‐transplant complications were graft‐versus‐host disease and infections.