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

Mon Apr 4 10:54:49 EDT 2016

Good morning,

We had a patient whose WES demonstrated a variant in the CD40LG region as well. The group at Seattle Children's Hospital (Dr. Hans Ochs and Dr. Troy Torgerson) performs a CD40L binding assay which proved quite helpful in his management. I would highly recommend them. Try contacting Jesus Lopez-Guisa (jesus<mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org><mailto:jesus.lopez-guisa at seattlechildrens.org>.lopez-guisa at seattlechildrens.org<mailto:jesus.lopez-guisa at seattlechildrens.org>), who works in their immunodiagnostics lab.

Joel L. Gallagher, MD FAAP
Allergy/Clinical Immunology Fellow
Medical College of Wisconsin
Children's Hospital of Wisconsin
Email: jgallagher at mcw.edu<mailto:jgallagher at mcw.edu>
Phone: (414) 266-6142
Pager: (414) 907-3041

________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Monday, April 4, 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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