2026-04-13T03:03:17Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/78082025-10-24T10:24:28Zcom_2072_378070com_2072_378040col_2072_378092

2025-10-24T10:24:28Z urn:hdl:11351/7808 Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort Lankester, Arjan Neven, Benedicte von Asmuth, Erik Courteille, Virginie Alligon, Mikael Díaz de Heredia Rubio, Maria Cristina Mahlaoui, Nizar Malalties congènites Cèl·lules mare hematopoètiques - Trasplantació DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Infant, Newborn, Diseases::Severe Combined Immunodeficiency Other subheadings::Other subheadings::Other subheadings::/genetics ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades del recién nacido::inmunodeficiencia combinada grave Otros calificadores::Otros calificadores::Otros calificadores::/genética Genetic subgroups; Immune reconstitution; Pretransplantation infections Subgrupos genéticos; Reconstitución inmune; Infecciones previas al trasplante Subgrups genètics; Reconstitució immune; Infeccions prèvies al trasplantament Background Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. Objective We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR) and the predictive value for clinical outcome. Methods HSCT outcome was studied in 338 patients with genetically confirmed SCID who underwent transplantation in 2006-2014 and who were registered in the SCETIDE registry. In a representative subgroup of 152 patients, data on IR and long-term clinical outcome were analyzed. Results Two-year OS was similar with matched family and unrelated donors and better than mismatched donor HSCT (P < .001). The 2-year event-free survival (EFS) was similar in matched and mismatched unrelated donor and less favorable in mismatched related donor (MMRD) HSCT (P < .001). Genetic subgroups did not differ in 2-year OS (P = .1) and EFS (P = .073). In multivariate analysis, pretransplantation infections and use of MMRDs were associated with less favorable OS and EFS. With a median follow-up of 6.2 years (range, 2.0-11.8 years), 73 of 152 patients in the IR cohort were alive and well without Ig dependency. IL-2 receptor gamma chain/Janus kinase 3/IL-7 receptor–deficient SCID, myeloablative conditioning, matched donor HSCT, and naive CD4 T lymphocytes >0.5 × 10e3/μL at +1 year were identified as independent predictors of favorable clinical and immunologic outcome. Conclusion Recent advances in HSCT in SCID patients have resulted in improved OS and EFS in all genotypes and donor types. To achieve a favorable long-term outcome, treatment strategies should aim for optimal naive CD4 T lymphocyte regeneration. 2025-10-24T10:24:28Z 2025-10-24T10:24:28Z 2022-07-19T08:40:42Z 2022-07-19T08:40:42Z 2022-05-01 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/7808 Journal of Allergy and Clinical Immunology;149(5) https://doi.org/10.1016/j.jaci.2021.10.017 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Elsevier Scientia