Matsukawa Yukihiro, Isshiki Kyohei, Osumi Tomoo, Fujiyama Satoshi, Fukushima Hiroko, Uchiyama Toru, Yamada Masaki, Deguchi Takao, Imadome Ken-Ichi, Matsumoto Kimikazu, Tomizawa Daisuke, Takada Hidetoshi, Onodera Masafumi, Kato Motohiro
Children's Cancer Center, National Center for Child Health and Development.
Department of Pediatrics, Saitama City Hospital.
Blood Cell Ther. 2022 May 27;5(3):75-78. doi: 10.31547/bct-2021-021. eCollection 2022 Aug 25.
Omenn syndrome (OS) is typically observed in the autosomal recessive form of severe combined immunodeficiency (SCID) with autoreactive manifestations, and it requires allogeneic hematopoietic stem cell transplantation. Unlike non-OS SCID, a conditioning regimen is usually required to eradicate T-cells; however, optimal conditioning regimens are not established mainly because of the rarity of OS. Here, we report a case of hematopoietic stem cell transplantation with a reduced dose of busulfan, as a conditioning regimen and successful engraftment with complete chimerism. OS was diagnosed in a one-month-old boy based on a diffuse erythematous rash, absent B-cells, and activated T-cells. Genetic analysis failed to identify causative mutations for OS/SCID, such as . Bone marrow transplantation was performed from his HLA-matched sister with a conditioning regimen consisting of targeted busulfan, fludarabine, and anti-thymocyte globulin. Cyclosporine had been administered before transplantation to control abnormal T-cell activation and continued for graft-versus-host disease (GVHD) prophylaxis. Engraftment was achieved on day 12, and no GVHD symptoms were observed. For stem cell transplantation for OS, prior control of autoreactive symptoms with immunosuppressants is important for safe transplantation and reduced intensity conditioning (RIC) can be an option to achieve sustained engraftment.
奥门综合征（OS）通常见于伴有自身免疫表现的常染色体隐性重症联合免疫缺陷（SCID），需要进行异基因造血干细胞移植。与非OS型SCID不同，通常需要采用预处理方案来清除T细胞；然而，由于OS病例罕见，最佳预处理方案尚未确立。在此，我们报告1例采用降低剂量白消安作为预处理方案进行造血干细胞移植且成功植入并实现完全嵌合的病例。一名1个月大男童因弥漫性红斑皮疹、B细胞缺失和T细胞活化而被诊断为OS。基因分析未能鉴定出OS/SCID的致病突变，如 。采用由靶向白消安、氟达拉滨和抗胸腺细胞球蛋白组成的预处理方案，从与其HLA匹配的姐姐进行骨髓移植。移植前已给予环孢素以控制异常T细胞活化，并持续用于预防移植物抗宿主病（GVHD）。在第12天实现植入，未观察到GVHD症状。对于OS的干细胞移植，移植前用免疫抑制剂预先控制自身免疫症状对于安全移植很重要，降低强度预处理（RIC）可以作为实现持续植入的一种选择。
