The Hyper IgM Foundation Blog

In these blog posts we hope to bring you recent summaries of relevant research for Hyper IgM Patients as well as our take away from the studies. In this post we will discuss the most recent large cohort of Hyper IgM cases out of Japan published in the Journal of Allergy and Clinical Immunology.

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan (October 2015).

Kanako Mitsui-Sekinaka, MD,a Kohsuke Imai, MD, PhD,a,b Hiroki Sato, MS,c Daisuke Tomizawa, MD, PhD,b Michiko Kajiwara, MD, PhD,d Masayuki Nagasawa, MD, PhD,b Tomohiro Morio, MD, PhD,b and Shigeaki Nonoyama, MD, PhD.  Saitama and 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.

Our Take:

This is one of the more recent studies (March 2015) to come out that had a large sample size (as well as data from patients not included in most of the EU and US studies). A total of 54 patients were included in the study, 29 patients had received HSCT. The study showed similar results as many of the previous studies: (i) survival rate at 40 yrs  is lower than 30%, (ii) HSCT was advised, and (iii) best results for HSCT are when the patients were 5 years or younger because of persistent infections and severe organ damage were frequently observed in patients older than 6 years.