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

• Authors: Kanako Mitsui-Sekinaka, Kohsuke Imai, Hiroki Sato, Daisuke Tomizawa, Michiko Kajiwara, Masayuki Nagasawa, Tomohiro Morio, Shigeaki Nonoyama
• Journal: The Journal of allergy and clinical immunology (J Allergy Clin Immunol) Vol. 136 Issue 4 Pg. 1018-24 (Oct 2015) ISSN: 1097-6825 [Electronic] United States
• PMID: 25840720 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Chemical References

• CD40 Ligand

Topics

• Adolescent
• Adult
• CD40 Ligand (genetics)
• Child
• Child, Preschool
• Female
• Hematopoietic Stem Cell Transplantation
• Humans
• Hyper-IgM Immunodeficiency Syndrome, Type 1 (mortality, surgery)
• Immunoglobulin Class Switching (genetics)
• Infant
• Japan
• Male
• Mutation (genetics)
• Retrospective Studies
• Survival Analysis
• Treatment Outcome
• Young Adult