[Analysis of efficacy and prognosis of allogeneic hematopoietic stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome].

Objective: To evaluate the efficacy and prognosis of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for the treatment of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome in children. Methods: In this case series study, clinical characteristics, laboratory tests, transplantation protocols, post-transplant disease remission, and survival status of 9 children with IPEX syndrome who underwent allo-HSCT at the Children's Hospital of Fudan University from July 2020 to December 2025 were collected. The transplantation experiences were summarized and the efficacy and safety of allo-HSCT for IPEX children were evaluated. Results: All 9 children were males. Eight children developed symptoms within the first month of age, and 1 at 5 years of age. The initial presentations were diarrhea in 4 children, diabetes mellitus in 2 children, and rash in 3 children. FOXP3 gene variants were maternally inherited in 8 children and de novo in 1 child. A total of 11 HSCT were performed in 9 children, with an overall engraftment of 9 times. Two children who experienced primary graft failure achieved successful engraftment after second HSCT at intervals of 3 and 4 months, respectively. Donor sources included 4 haploidentical donors, 3 unrelated cord blood and 2 matched unrelated donors. All conditioning regimens were based on fludarabine and busulfan. The age at transplantation was 37.5 (12.4, 70.3) months, with a follow-up of 17.4 (9.7, 26.8) months. All 9 children survived. Eight children achieved complete donor chimerism, and 1 had mixed chimerism. The times to neutrophil and platelet engraftment were 13 (11, 18) and 9 (9, 29) d, respectively. The times for absolute CD19+and CD4+ cell counts exceed 2×108 cells/L were 165 (94, 270) and 165 (100, 183) d, respectively. Five children developed grade Ⅰ-Ⅱ acute graft versus host disease (GVHD), all presenting as skin involvement and resolved following glucocorticoid-based immunosuppressive therapy. No grade Ⅲ-Ⅳ acute GVHD or chronic GVHD occurred. Recurrent diarrhea, anemia, severe infection, eczema, and nephropathy all achieved complete remission through allo-HSCT. Among the 5 children with hypothyroidism and 2 children with diabetes mellitus, levothyroxine and insulin replacement therapy were still required, with well-controlled conditions. No new autoimmune diseases developed. Conclusions: allo-HSCT is an effective curative approach for IPEX syndrome, capable of halting disease progression, but cannot reverse pre-existing endocrine damage. No severe infections and GVHD occurred post-transplantation. Early diagnosis and early transplantation are crucial for improving outcomes.