Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan

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• 作者：Kanako Mitsui-Sekinaka ; MD^a ; Kohsuke Imai ; MD ; PhD^a ; ^b ; ^{kimai.ped@tmd.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Hiroki Sato ; MS^c ; Daisuke Tomizawa ; MD ; PhD^b ; Michiko Kajiwara ; MD ; PhD^d ; Masayuki Nagasawa ; MD ; PhD^b ; Tomohiro Morio ; MD ; PhD^b ; Shigeaki Nonoyama ; MD ; PhD^a
• 关键词：CD40 ligand ; hematopoietic stem cell transplantation ; Pneumocystis jirovecii ; Cryptosporidium parvum ; Cryptococcus neoformans ; primary immunodeficiency ; hyper-IgM syndrome ; combined immunodeficiency ; class-switch recombination
• 刊名：Journal of Allergy and Clinical Immunology
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：136
• 期：4
• 页码：1018-1024
• 全文大小：459 K

文摘

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.