[CIS PIDD] [cis-pidd] Help with suspected Hyper IgM

[CIS-PIDD]

Hello,

I followed a 10 months-old male infant with severe and recurrent infections (purulent otitis media, pneumonia, forearm abscess etc), cataracts and bone demineralization with fracture. The investigations confirmed a HIGM phenotype. Over the next period of time, the IgM isotype level has increased 40-45 times higher than normal range. As a peculiarity, the necessity for IRT was very limited. The genetic background was negative for CD40, CD40L, AID/UNC, PIK3CD and PIK3R1. Alfa-feto-protein - also normal. After 1 year evolution with severe infectious, the patient's phenotype has changed from Hyper-IgM pattern to selective IgA deficiency (??). So, please notice that a HIGM phenotype can modify over time. Maybe this information can be useful for you (when no specific genetic background is found).

Warm regards,
Sorin Iurian
Professor Assistant
Lucian Blaga University,
Sibiu, Romania

P.S. The case was published (additional information on the following address: 10.1515/rrlm-2015-0027).

________________________________
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Sent: Tuesday, November 1, 2016 2:40 PM
To: CIS-PIDD
Subject: [cis-pidd] Help with suspected Hyper IgM


I wanted to check with the group to see if I could receive some guidance on the next steps of evaluation for a patient of ours:



The patient in question is a 7 year old with a 1 year history of recurrent bacterial pneumonia as well as one episode of Giardia gastroenteritis.   There is no other significant past medical history, no physical exam abnormalities, and no neurological impairment.



Immunoglobulins were drawn during a hospital admission for pneumonia: IgG: <17 mg/dl, IgA: < 2, IgM: 459.2 (171.2 on recheck 2 months later), IgE: <2



CBC was normal for age when he was not acutely ill with no eosinophilia.



Flow cytometry:

                CD3: 2896/mm3 (72%)

                CD4: 1368 (34%)

                CD8: 1327 (33%)

                CD19: 523 (13%)

                CD20:  523 (13%)



Vaccine responses (random) to diphtheria, tetanus, and pneumococcus (23-serotype) were absent (he was up to date).



CH50 was initially 0 and 11 CAE units on repeat



Testing was sent (through gene dx) for CD40L (normal), then CD40, AID/UNG were sent and were also normal.





Any suggestions on further evaluation?  We have discussed sending PI3-kinase testing, but I wasn't sure if there was anything else we should consider?



Thank you for the help!





Robbie



Robbie Pesek, MD

Medical Director, Asthma

Medical Director, Eosinophilic Gastrointestinal Disorders

Assistant Professor of Pediatrics

Division of Allergy and Immunology

University of Arkansas for Medical Sciences



Arkansas Children's Hospital

13 Children's Way, Slot 512-13

Little Rock, AR 72202

phone: 501-364-1060

fax: 501-364-3173



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