Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation
Abstract Very early onset inflammatory bowel disease (VEO-IBD) with interleukin-10 receptor-A (IL-10RA) defects is characterised by severe and unmanageable intestinal inflammation, perianal lesions, and a high mortality rate, with the onset of the disease occurring at a very early age. Currently, al...
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Nature Portfolio
2025-03-01
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| author | Yafeng Wang Dandan Liu Haili Gao Wei Liu Yanna Mao |
| author_facet | Yafeng Wang Dandan Liu Haili Gao Wei Liu Yanna Mao |
| author_sort | Yafeng Wang |
| collection | DOAJ |
| description | Abstract Very early onset inflammatory bowel disease (VEO-IBD) with interleukin-10 receptor-A (IL-10RA) defects is characterised by severe and unmanageable intestinal inflammation, perianal lesions, and a high mortality rate, with the onset of the disease occurring at a very early age. Currently, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is one of the most effective treatments for VEO-IBD patients with IL-10 signaling deficiency. The objective of this study was to evaluate the clinical effectiveness of allo-HSCT in the treatment of children with VEO-IBD and IL-10RA deficiency, and to provide further clinical insights. A retrospective analysis and summary of the clinical data of seven patients with VEO-IBD and IL-10RA deficiency from January 2021 to December 2023 was performed. These patients subsequently underwent allo-HSCT after receiving a reduced-intensity conditioning regimen followed by a cyclosporine-based regimen for the prevention of graft versus host disease (GVHD). Hematopoietic reconstruction was performed on seven children with VEO-IBD combined with IL-10RA deficiency. Four patients developed grade I-II GVHD, while three patients developed grade III-IV GVHD after undergoing allo-HSCT. At a median follow-up of 518 days after allo-HSCT (range: 210–1072 days), six patients were alive, while one patient died 16 months after the procedure because of chronic GVHD and severe infections. The 3-year cumulative overall survival (OS) probability rate was 80.0% (95% CI: 44.7–100.0). All VEO-IBD patients demonstrated weight gain following HSCT, with substantial improvements observed in severe malnutrition and growth retardation associated with IL-10RA deficiency post-transplantation. Allo-HSCT is thus identified as the optimal curative therapy for VEO-IBD patients with IL10-RA deficiency. The importance of early multidisciplinary intervention and co-management of VEO-IBD is paramount in improving HSCT outcomes. |
| format | Article |
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| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-5b5eb3a5f6f84fa3a0d35c68d04692ca2025-08-20T03:41:41ZengNature PortfolioScientific Reports2045-23222025-03-0115111010.1038/s41598-025-92979-6Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantationYafeng Wang0Dandan Liu1Haili Gao2Wei Liu3Yanna Mao4Department of Hematology and Oncology, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou UniversityDepartment of Pediatrics, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou UniversityDepartment of Hematology and Oncology, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou UniversityDepartment of Hematology and Oncology, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou UniversityDepartment of Hematology and Oncology, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou UniversityAbstract Very early onset inflammatory bowel disease (VEO-IBD) with interleukin-10 receptor-A (IL-10RA) defects is characterised by severe and unmanageable intestinal inflammation, perianal lesions, and a high mortality rate, with the onset of the disease occurring at a very early age. Currently, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is one of the most effective treatments for VEO-IBD patients with IL-10 signaling deficiency. The objective of this study was to evaluate the clinical effectiveness of allo-HSCT in the treatment of children with VEO-IBD and IL-10RA deficiency, and to provide further clinical insights. A retrospective analysis and summary of the clinical data of seven patients with VEO-IBD and IL-10RA deficiency from January 2021 to December 2023 was performed. These patients subsequently underwent allo-HSCT after receiving a reduced-intensity conditioning regimen followed by a cyclosporine-based regimen for the prevention of graft versus host disease (GVHD). Hematopoietic reconstruction was performed on seven children with VEO-IBD combined with IL-10RA deficiency. Four patients developed grade I-II GVHD, while three patients developed grade III-IV GVHD after undergoing allo-HSCT. At a median follow-up of 518 days after allo-HSCT (range: 210–1072 days), six patients were alive, while one patient died 16 months after the procedure because of chronic GVHD and severe infections. The 3-year cumulative overall survival (OS) probability rate was 80.0% (95% CI: 44.7–100.0). All VEO-IBD patients demonstrated weight gain following HSCT, with substantial improvements observed in severe malnutrition and growth retardation associated with IL-10RA deficiency post-transplantation. Allo-HSCT is thus identified as the optimal curative therapy for VEO-IBD patients with IL10-RA deficiency. The importance of early multidisciplinary intervention and co-management of VEO-IBD is paramount in improving HSCT outcomes.https://doi.org/10.1038/s41598-025-92979-6Very early-onset inflammatory bowel diseaseInterleukin-10 receptor-A deficiencyAllogeneic haematopoietic stem cell transplantationClinical efficacyChildren |
| spellingShingle | Yafeng Wang Dandan Liu Haili Gao Wei Liu Yanna Mao Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation Scientific Reports Very early-onset inflammatory bowel disease Interleukin-10 receptor-A deficiency Allogeneic haematopoietic stem cell transplantation Clinical efficacy Children |
| title | Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| title_full | Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| title_fullStr | Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| title_full_unstemmed | Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| title_short | Treatment of IL-10RA deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| title_sort | treatment of il 10ra deficiency of pediatric patients with very early onset inflammatory bowel disease by allogeneic haematopoietic stem cell transplantation |
| topic | Very early-onset inflammatory bowel disease Interleukin-10 receptor-A deficiency Allogeneic haematopoietic stem cell transplantation Clinical efficacy Children |
| url | https://doi.org/10.1038/s41598-025-92979-6 |
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