Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experience
Open Access
- 20 May 2004
- journal article
- research article
- Published by Wiley in American Journal of Hematology
- Vol. 76 (1), 33-39
- https://doi.org/10.1002/ajh.20044
Abstract
X-linked hyper-IgM syndrome (XHIM), or hyper-IgM syndrome type 1 (HIGM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum. The long-term outcome is quite poor, and allogeneic hematopoietic stem cell transplantation (HSCT) offers the only cure. Seven patients with XHIM, from age 3 to 19 years (mean 11.3 years), underwent allogeneic HSCT in our institution. Details of pre- and post-transplantation data and transplantation procedure were analyzed retrospectively. The donors were HLA-identical siblings for three patients and HLA-identical unrelated donors for four patients. All but one received conventional conditioning regimen consisting of busulfan and cyclophosphamide and prophylaxis for graft-versus-host disease (GVHD) consisting of cyclosporine and methotrexate. Five out of seven patients are alive and well with normal CD40L expression, and four of these five are free of intravenous immunoglobulin supplementation. The two patients who died had prolonged episodes of severe and recurrent infections and organ damage. We conclude that conventional allogeneic HSCT from HLA matched related or unrelated donors is curative and feasible for XHIM patients, if performed before significant infections and organ damage occur. For the high-risk patients, an alternative approach including nonmyeloablative HSCT may be more feasible. Am. J. Hematol. 76:33–39, 2004.This publication has 24 references indexed in Scilit:
- Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndromeBone Marrow Transplantation, 2002
- Immunologic Reconstitution Following Bone Marrow Transplantation for X-Linked Hyper IgM SyndromeClinical Immunology, 2001
- Correction of the Hyper-IgM Syndrome after Liver and Bone Marrow TransplantationThe New England Journal of Medicine, 2000
- Successful bone marrow transplantation in a child with X-linked hyper-IgM syndromeBone Marrow Transplantation, 1999
- Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantationBone Marrow Transplantation, 1998
- Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgMBone Marrow Transplantation, 1998
- Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndromeHuman Genetics, 1997
- A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.JCI Insight, 1996
- Correction of X-Linked Hyper-IgM Syndrome by Allogeneic Bone Marrow TransplantationThe New England Journal of Medicine, 1995
- The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndromeCell, 1993