HLA-haploidentical stem cell transplantation for chronic granulomatous disease: an EBMT-IEWP retrospective study.

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Tác giả: Serap Aksoylar, Michael H Albert, Dmitry Balashov, Vincent Barlogis, Benedicte Bruno, Jochen Buechner, Maura Faraci, Andrew R Gennery, Tayfun Güngör, Khalid Halahleh, Hasan Hashem, Mathias M Hauri-Hohl, Wolfgang Holter, Musa Karakukcu, Jeroen Knippenberg, Alexandra Laberko, Franco Locatelli, Su Han Lum, Karin M Mellgren, Despina Moshous, Bénédicte Neven, Antonio Pérez-Martínez, Fulvio Porta, Quentin Riller, Catharina Schuetz, Henrik Sengeloev, Tiarlan Sirait, Mary A Slatter, Felipe Suarez, Claudia Wehr, Marco Zecca

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Blood , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 718229

Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by defective NADPH oxidase function, leading to impaired microbial killing, recurrent infections and granulomatous inflammation. Allogenic hematopoietic stem cell transplantation (HSCT) is a curative treatment for CGD, particularly effective when a fully HLA-matched donor is available. However, the place of HLA-haploidentical HSCT remains less established. This retrospective, multicenter study analyzed outcomes of 64 CGD patients (53 males, 46 with X-linked CGD) who underwent a first HSCT with HLA-haploidentical family donors either with in vitro TCRαβ/CD19 depletion or in vivo depletion using post-transplant cyclophosphamide (PTCY). The mean age at transplant was 5.8 years (0-33 years). Patients exhibited a high disease burden prior to HSCT, with 45% experiencing infections in the 6 months prior to HSCT and 67% exhibiting inflammation. Outcomes in the entire cohort showed a 3-year overall survival (OS), event-free survival (EFS) and GvHD grade III to IV-free, event-free survival (GEFS) of 75.9%, of 70.2%, and of 56.1% respectively and were not impacted by the type of depletion or age. The cumulative incidence (CI) of primary graft failure was 20.6%. The CI of grade II to IV acute GvHD was higher in the PTCY group (p=0.04) whereas the CI of GVH grade III to IV was not. These results indicate that HLA-haploidentical HSCT is a feasible transplant option for CGD patients lacking HLA-matched donors. Further refinement of transplant protocols is necessary to mitigate graft failure and acute GvHD, ultimately improving access and outcomes for this life-saving therapy.
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