Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
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DOI：
10.1182/blood-2006-05-025072
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发表时间：
2007-01-01
期刊：
影响因子：
20.3
通讯作者：
Shenoy, Shalini
中科院分区：
文献类型：
--
作者：
Rao, Aarati;Kamani, Naynesh;Shenoy, Shalini
免疫失调、多内分泌病、肠病、x连锁综合征（IPEX）是一种罕见的、致命的自身免疫性疾病，由FOXP3基因突变引起的，导致参与调节性t淋巴细胞功能的信号通路中断。终生多药免疫抑制对于控制衰弱性自身免疫表现如结肠炎和食物过敏是必要的。同种异体造血干细胞移植（HSCT）可以恢复t细胞的调节功能，但先前与不良预后相关。我们描述了4例IPEX综合征患者成功的HSCT，使用一种新的低强度调节方案，导致稳定的供体移植，FOXP3(+) T调节性CD4（+）细胞的重建，以及胃肠道症状的改善。(c) 2007年由美国血液学会出版
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, fatal autoimmune disorder caused by mutations in the FOXP3 gene leading to the disruption of signaling pathways involved in regulatory T-lymphocyte function. Lifelong multiagent immunosuppression is necessary to control debilitating autoimmune manifestations such as colitis and food allergies. Allogeneic hematopoietic stem cell transplantation (HSCT) can restore T-cell regulatory function but has been previously associated with poor outcome. We describe successful HSCT in 4 patients with IPEX syndrome using a novel reduced-intensity conditioning regimen that resulted in stable donor engraftment, reconstitution of FOXP3(+) T regulatory CD4(+) cells, and amelioration of gastrointestinal symptoms. (c) 2007 by The American Society of Hematology