[CIS PIDD] [cis-pidd] Hyper IgM

[CIS-PIDD]

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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