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Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L
Article first published online: 18 JAN 2007
DOI: 10.1111/j.1365-2567.2006.02520.x
Additional Information
How to Cite
Van Hoeyveld, E., Zhang, P.-X., De Boeck, K., Fuleihan, R. and Bossuyt, X. (2007), Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. Immunology, 120: 497–501. doi: 10.1111/j.1365-2567.2006.02520.x
Publication History
- Issue published online: 18 JAN 2007
- Article first published online: 18 JAN 2007
- Received 30 May 2006; revised 27 October 2006; accepted 30 October 2006.
- Abstract
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Keywords:
- hyper-IgM;
- CD40L;
- immunodeficiency
Summary
Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency characterized by elevated or normal IgM and absent or markedly decreased amounts of IgG, IgA and IgE. The X-linked form (HIGM1) is the most common type and is caused by mutations in the gene for CD40L, a T-cell surface molecule required for T-cell driven immunoglobulin class switching by B cells. In the present study we have identified a patient with X-linked hyper-IgM who failed to express CD40L on the cell surface of CD4+ T lymphocytes. Sequence analysis of CD40L genomic DNA showed no mutations. CD40L mRNA was absent and sequence analysis of the CD40L promotor revealed a mutation at position −123 from the transcription start site. The mutation in the promotor region likely contributed to the decreased transcription as demonstrated by a luciferase reporter assay.