[CIS PIDD] [cis-pidd] Hyper IgM

Thu May 26 02:17:33 EDT 2016

Dear Ronald,

you might consider basal T cell phenotyping (especially naive/memory T cells) to help you in your differentials (APDS, ATM, etc.).

Best regards, Fabian

Fabian Hauck, MD, PhD
Head of Immunodeficiency Unit and Immunological Diagnostics Laboratory
Consultant Hematologist/Oncologist
Dr. von Hauner Children’s Hospital
Klinikum der Universität München
Campus Innenstadt
Lindwurmstrasse 4, 80337 Munich
Phone: +49 (89) 4400-53931
Fax: +49 (89) 4400-53964
Email: fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>

The Klinikum der Universität München is an Institution under Public Law

Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Donnerstag, 26. Mai 2016 07:20
An: CIS-PIDD
Betreff: Re: [cis-pidd] Hyper IgM

Dear Ronald,

we had recently a similar case that finally showed to be activated PI3K syndrome.

Regards
Anna

On Thu, May 26, 2016 at 12:37 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
Dear Colleagues,

I’d like your help regarding a patient of ours with hyper-IgM.

He presented to us at 2 years of age with diffuse lymphadenopathy (cervical, axillary, inguinal, hilar, mediastinal, retroperitoneal) and splenomegaly.  However, he did not have a history of recurrent infections.

•         IgG and IgA – undetectable

•         IgM = 338 mg/dL

•         Absent antibodies to Hib, tetanus and all pneumococcal serotypes despite full immunizations for age

•         Normal T, B and NK lymphocytes

•         Absent switched B cells

•         Pathology of a lymph node biopsy showed: “florid follicular hyperplasia with expanded germinal centers and tingible body macrophages”.  IgD present, IgM increased and IgG absent.  No malignancy and no infections.

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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