Abstract
X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.
Similar content being viewed by others
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Scholl, P., O’Gorman, M., Pachman, L. et al. Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. Bone Marrow Transplant 22, 1215–1218 (1998). https://doi.org/10.1038/sj.bmt.1701512
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.bmt.1701512
- Springer Nature Limited
Keywords
This article is cited by
-
Hyper IgM Syndrome: a Report from the USIDNET Registry
Journal of Clinical Immunology (2016)
-
The Hyper IgM Syndromes
Clinical Reviews in Allergy & Immunology (2014)
-
Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome
Bone Marrow Transplantation (2002)
-
The hyper IgM syndrome
Current Allergy and Asthma Reports (2001)