Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Department of Pediatrics, National Defense Medical College, Saitama, Japan; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
J Allergy Clin Immunol. 2015 Oct;136(4):1018-24. doi: 10.1016/j.jaci.2015.02.020. Epub 2015 Mar 31.
The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic stem cell transplantation (HSCT).
We sought to determine the clinical features and factors affecting outcomes in patients with XHIM.
We enrolled and retrospectively analyzed data from 56 Japanese patients with XHIM, including 29 patients who received HSCT.
The long-term survival rate was poor in those not undergoing HSCT (overall survival rate at 40 years of age, 28.2%). The overall survival rate of patients undergoing HSCT (n = 29) was significantly higher than that of those not undergoing HSCT (n = 27, P = .0231). Moreover, event-free and disease-free survival rates were significantly greater in patients 5 years old or younger at the time of transplantation (n = 14) than in older patients (n = 15).
On the basis of these results, we concluded that HSCT improved the outcomes of patients with XHIM and that an age of 5 years or younger was optimal for the timing of HSCT because persistent infections and severe organ damage were frequently observed in patients older than 6 years.
CD40LG 基因突变导致的 X 连锁高免疫球蛋白 M 综合征（XHIM）的长期预后较差，唯一的根治性治疗方法是造血干细胞移植（HSCT）。
我们旨在确定 XHIM 患者的临床特征和影响预后的因素。
我们入组并回顾性分析了 56 例日本 XHIM 患者的数据，包括 29 例接受 HSCT 的患者。
未接受 HSCT 的患者长期生存率较差（40 岁时总生存率为 28.2%）。接受 HSCT（n=29）的患者的总生存率明显高于未接受 HSCT（n=27）的患者（P=0.0231）。此外，移植时年龄在 5 岁或以下的患者（n=14）的无事件和无病生存率明显高于年龄较大的患者（n=15）。
基于这些结果，我们得出结论，HSCT 改善了 XHIM 患者的预后，并且在 5 岁或以下的年龄进行 HSCT 是最佳时机，因为 6 岁以上的患者经常出现持续感染和严重的器官损伤。
