Roesler Joachim, Horwitz Mitchell E, Picard Capucine, Bordigoni Pierre, Davies Graham, Koscielniak Ewa, Levin Mike, Veys Paul, Reuter Ursula, Schulz Ansgar, Thiede Christian, Klingebiel Thomas, Fischer Alain, Holland Steven M, Casanova Jean-Laurent, Friedrich Wilhelm
Department of Pediatrics and the Department of Internal Medicine, University Clinic Carl Gustav Carus, Dresden, Germany.
J Pediatr. 2004 Dec;145(6):806-12. doi: 10.1016/j.jpeds.2004.08.021.
To evaluate the outcome of hematopoietic stem cell transplantation (HSCT) in a series of patients with inherited complete IFN-gamma receptor 1 (IFNgammaR1) deficiency.
We report 8 patients who received altogether 11 HSCT from family donors, including 10 HLA-identical (5 siblings and 5 relatives) and 1 HLA-haplo-identical donors. Five grafts were T-cell depleted, and conditioning regimens varied in intensity.
Four patients died within 8 months after HSCT. Two of these deaths were due to specific complications related to mycobacterial infection. There was no or very low (2%) donor cell engraftment in 2 survivors. Only 2 patients are in full remission of mycobacterial disease 5 years after HSCT. These are the only patients who received non-T-cell-depleted grafts from an HLA-identical sibling after a fully myeloablative conditioning regimen.
HSCT can lead to prolonged remission of mycobacterial disease in children with complete IFNgammaR1 deficiency. However, optimal control of mycobacterial infection before HSCT and the use of a non-T-cell-depleted transplant from an HLA-identical sibling after a fully myeloablative conditioning regimen are recommended.
评估一系列遗传性完全γ干扰素受体1（IFNγR1）缺陷患者接受造血干细胞移植（HSCT）的结果。
我们报告了8例患者，他们共接受了11次来自家族供者的HSCT，其中包括10例HLA配型相合（5例同胞和5例亲属）和1例HLA单倍型相合供者。5次移植进行了T细胞去除，预处理方案的强度各不相同。
4例患者在HSCT后8个月内死亡。其中2例死亡是由于与分枝杆菌感染相关的特定并发症。2例幸存者中未出现或仅有极低水平（2%）的供体细胞植入。仅2例患者在HSCT后5年分枝杆菌病完全缓解。这2例是仅有的在接受了清髓性预处理方案后，从HLA配型相合的同胞处接受未去除T细胞移植的患者。
HSCT可使完全IFNγR1缺陷儿童的分枝杆菌病获得长期缓解。然而，建议在HSCT前对分枝杆菌感染进行最佳控制，并在清髓性预处理方案后，从HLA配型相合的同胞处进行未去除T细胞的移植。
