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

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...

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2015-10, Vol.136 (4), p.1018-1024
Main Authors: Mitsui-Sekinaka, Kanako, MD, Imai, Kohsuke, MD, PhD, Sato, Hiroki, MS, Tomizawa, Daisuke, MD, PhD, Kajiwara, Michiko, MD, PhD, Nagasawa, Masayuki, MD, PhD, Morio, Tomohiro, MD, PhD, Nonoyama, Shigeaki, MD, PhD
Format: Article
Language:English
Subjects:
Adolescent
Adult
Allergy and Immunology
Bacterial infections
Bone marrow
CD40 ligand
CD40 Ligand - genetics
Child
Child, Preschool
class-switch recombination
combined immunodeficiency
Cryptococcus neoformans
Cryptosporidium parvum
Female
Hematopoietic Stem Cell Transplantation
Humans
Hyper-IgM Immunodeficiency Syndrome, Type 1 - mortality
Hyper-IgM Immunodeficiency Syndrome, Type 1 - surgery
hyper-IgM syndrome
Immunoglobulin Class Switching - genetics
Infant
Japan
Male
Mortality
Mutation
Mutation - genetics
Pneumocystis jirovecii
primary immunodeficiency
Retrospective Studies
Survival Analysis
Transplants & implants
Treatment Outcome
Young Adult
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Summary: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.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2015.02.020