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

[CIS-PIDD]

Thank you, Paul.  JC

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org] 
Sent: Monday, April 04, 2016 8:29 AM
To: CIS-PIDD
Subject: RE:[cis-pidd] CD40L variant of unknown significance

Dear Joe,

It's been awhile since I have contact with him, but Ash Jain at the NIH has been studying a variety of aspects of Hyper IgM and CD40L. He was also doing some genomic studies of HyperIgM and links to CVID. He might be able to help or send you to someone else who can. His email is : ajain at niaid.nih.gov<mailto:ajain at niaid.nih.gov>

Paul Dowling
Children's Mercy Hospitals and Clinics


________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Monday, April 04, 2016 9:33 AM
To: CIS-PIDD
Subject: [cis-pidd] CD40L variant of unknown significance

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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