[CIS PIDD] [cis-pidd] Hyper IgM

Tue May 3 23:39:41 EDT 2016

CD40L expression can be normal in 5 to 10% of children with X linked Hyper IgM. However, the CD40L expressed is abnormal and does not bind to CD40. You could test this with CD40Ig staining and if this is absent, you would know that the mutation leads to an abnormal CD40L which does not bind to CD40. 

Regards,
Amit Rawat
 --Dr. Amit Rawat MD (Pathology) PDCC (Laboratory Immunology) PDCC (Nephropathology) MAMS
Additional Professor, Paediatric Allergy & Immunology UnitDepartment of Paediatrics, Advanced Paediatric CentrePostgraduate Institute of Medical Education & ResearchSector 12, Chandigarh 160012. Phone: +91-172-2755682 (Off), +91-99-14208486 (Mob) Email: rawatamit at yahoo.com, amitrawat2002 at rediffmail.com

      From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
 To: CIS-PIDD <cis-pidd at lyris.dundee.net> 
 Sent: Wednesday, May 4, 2016 2:16 AM
 Subject: RE:[cis-pidd] Hyper IgM

I have not spoken with him in a few years, but Ash Jain at the NIH was studying Hyper IgM , he may be able to answer your question. Email address I have is AJain at niaid.nih.gov<mailto:AJain at niaid.nih.gov>

Good luck,

Paul

Paul J Dowling, MD
Director, Allergy/Immunology Fellowship Program
Associate Professor, Dept. of Pediatrics
University of Missouri - Kansas City
Children's Mercy Hospitals and Clinics

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Sent: Tuesday, May 03, 2016 3:22 PM
To: CIS-PIDD
Subject: [cis-pidd] Hyper IgM

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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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