Kanako Mitsui-Sekinaka1, Kohsuke Imai2, Hiroki Sato3, Daisuke Tomizawa4, Michiko Kajiwara5, Masayuki Nagasawa4, Tomohiro Morio4, Shigeaki Nonoyama1. 1. Department of Pediatrics, National Defense Medical College, Saitama, Japan. 2. Department of Pediatrics, National Defense Medical College, Saitama, Japan; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: kimai.ped@tmd.ac.jp. 3. Department of Public Health, National Defense Medical College, Saitama, Japan. 4. Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. 5. Department of Transfusion Medicine, Medical Hospital, Tokyo Medical and Dental University, Tokyo, Japan.
Abstract
BACKGROUND: 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). OBJECTIVE: We sought to determine the clinical features and factors affecting outcomes in patients with XHIM. METHODS: We enrolled and retrospectively analyzed data from 56 Japanese patients with XHIM, including 29 patients who received HSCT. RESULTS: 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). CONCLUSION: 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.
BACKGROUND: 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). OBJECTIVE: We sought to determine the clinical features and factors affecting outcomes in patients with XHIM. METHODS: We enrolled and retrospectively analyzed data from 56 Japanese patients with XHIM, including 29 patients who received HSCT. RESULTS: 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). CONCLUSION: 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.
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