CD40LG


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CD40LG

A gene on chromosome Xq26 that encodes of a protein expressed on the surface of T cells which regulates B-cell function by binding CD40 to the B-cell surface. CD40LG is critical for immunoglobulin class switching. 

Molecular pathology
A defect in CD40LG is associated with hyper IgM syndrome due to an inability to undergo class switch.
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In order to detect T cell activation and CD40LG expression, peripheral blood mononuclear cells were stimulated with phorbol 12-myristate 13-acetate (PMA, 20ng/ml) and ionomycin (1M) for 4 hours.
This finding showed us that this mutation in CD40LG gene resulted in highly decreased, but not absent, CD40LG expression.
The first message for this case report has to be as follows: diagnostic delay has been noted as a clinical problem for patients with CD40LG deficiency, with up to 50% of patients presenting with low or normal IgM levels, so that all the hypogammaglobulinemic patients, not only with high serum IgM levels, but also with normal to low IgM levels, have to be examined for CD40LG expression on activated T lymphocytes.
Female carriers have been reported as showing variable expression of CD40LG on activated T cells.
Richardson, "Demethylation of CD40LG on the inactive X in T cells from women with lupus," The Journal of Immunology, vol.