Title: Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L
Authors: Van Hoeyveld, Ernestina
Zhang, Ping-Xia
De Boeck, Kris
Fuleihan, Ramsay
Bossuyt, Xavier # ×
Issue Date: Jan-2007
Publisher: Blackwell Scientific Publications
Series Title: Immunology vol:120 issue:4 pages:497-501
Abstract: 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.
ISSN: 0019-2805
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Clinical Bacteriology and Mycology
Experimental Laboratory Immunology
Laboratory of Clinical Immunology
× corresponding author
# (joint) last author

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