[CIS PIDD] [cis-pidd] Hyper IgM

[CIS-PIDD]

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>
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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-- 
Prof. Anna Sediva, M.D., Ph.D.
Department of Immunology
2nd School of Medicine, Charles University
University Hospital Motol
V Uvalu 84
Prague, 15006
Czech Republic

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