[CIS PIDD] [cis-pidd] Hyper IgM

[CIS-PIDD]

Hi all:



I have an 18yo male patient with a mutation in CD40L c.256G>A that is reported as unknown significance. He has normal CD40L expression by flow. I found one report from Boston Children's (Ramesh N et al. 1995 Human Molecular Genetics) that suggested that this mutation led to aberrant splicing ultimately causing a deletion. Their patient had loss of CD40L expression in PBMC's.

This mutation would somewhat fit my patient's phenotype.

Has anyone seen this with Hyper IgM?

Thanks,

Jen Leiding
Jennifer Leiding, MD
Assistant Professor
University of South Florida
Department of Pediatrics
Division of Allergy, Immunology, and Rheumatology
Children's Research Institute
140 - 7th Avenue South Box 9680
St. Petersburg, Florida 33701
Phone: 727.553.1304
Fax: 727.553.1295



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