[CIS PIDD] [cis-pidd] CD40L variant of unknown significance

[CIS-PIDD]

Colleagues:

I follow an adult with specific antibody deficiency.  Her son has a more complete antibody deficiency and he has been evaluated at another institution.  There, exome sequencing revealed a variant of unknown significance in CD40LG present in both the son and mother.  Their CD40L expression on activated T-cells was normal (Cincinnati Children's Lab).

Would anyone be able to study CD40L signaling in these patients?

Joe Church
Children's Hospital Los Angeles


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