[CIS PIDD] [cis-pidd] Hyper IgM

Thu May 26 00:19:21 EDT 2016

I would definitely try and rule out Ataxia telangiectasia. Look carefully for any ocular telangiectasia and gait abnormalities. An Alpha protein estimation would help. We had a similar case of a girl who in the first instance looked like Hyper IgM but genes for Hyper IgM were normal and eventually the child started having gait abnormalities and had ocular telangiectasia and a mutation was detected in the ATM gene. The telangiectasia and gait abnormalities appeared later.
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>
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 Sent: Thursday, May 26, 2016 4:07 AM
 Subject: [cis-pidd] Hyper IgM
   
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Clinically, except for developmental delay, he is doing well.  His lymphadenopathy has improved / resolved, and his IgM has normalized since IVIG replacement was started.  He remains infection free.    ·        Microarray was normal, and specifically there were no areas of increased homozygosity. ·        Flow cytometry (repeated x 2) for CD40 ligand showed: 85% expression on activated CD4 T cells, and 78% of the activated T cells bound recombinant human CD40 (normal >=80%).  Maternal testing showed 95% expression on activated T cells and 92% of these bound CD40.  This was interpreted as a hypomorphic CD40L expression. ·        Gene testing at GeneDx lab was normal for CD40 ligand, CD40, UNG and AICDA I’d appreciate your thoughts regarding his diagnosis and what other diagnostic testing you would recommend.    Regards, Ron       Ronald Ferdman, MD, MEd Division of Clinical Immunology and Allergy Children’s Hospital Los Angeles Associate Professor Clinical Pediatrics Department of Pediatrics Keck School of Medicine University of Southern California       
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