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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:136

Article

Mitsui-Sekinaka, Kanako¹  Imai, Kohsuke^1,3  Sato, Hiroki²  Tomizawa, Daisuke³  Kajiwara, Michiko⁴  Nagasawa, Masayuki³  Morio, Tomohiro³  Nonoyama, Shigeaki¹ 

[1] Natl Def Med Coll, Dept Pediat, Saitama, Japan

[2] Natl Def Med Coll, Dept Publ Hlth, Saitama, Japan

[3] Tokyo Med & Dent Univ, Dept Pediat, Tokyo, Japan

[4] Tokyo Med & Dent Univ, Hosp Med, Dept Transfus Med, Tokyo, Japan

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;   

DOI  :  10.1016/j.jaci.2015.02.020

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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