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

Tue Nov 1 09:26:30 EDT 2016

Hello Robbie,

one of the differentials is XL or AD EDA-ID (NEMO and IkBa). You should have a look at NF-kB signaling.

Fabian

Fabian Hauck, MD, PhD

Attending physician / Head Immunodeficiency Unit and Immunological Diagnostics Laboratoy
Pediatrics / Pediatric Hematology and Oncology / Immunology (DGfI)

Dr. von Hauner Children’s Hospital
Klinikum der Universität München 
Lindwurmstr. 4, 80337 München
Germany

Tel.: +49 89 4400-53931
Fax: +49 89 4400-53964
E-Mail: fabian.hauck at med.uni-muenchen.de

Von: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Gesendet: Dienstag, 1. November 2016 14:08
An: CIS-PIDD
Betreff: RE:[cis-pidd] Help with suspected Hyper IgM

Hello Robbie
History and labs are most suggestive of XHIGM
Would suggest careful flow analysis to evaluate if CD40L gets expressed from fresh PBMC.
Would suggest contacting Troy Torgerson,  Seattle Children’s Immunology Lab
Maite

Maite de la Morena, MD
Professor of Pediatrics  and Internal Medicine
Division of Allergy and Immunology
University of Texas Southwestern Medical Center in Dallas
5323 Harry HInes Blvd
Dallas, Texas 75390-9063
Phone 214 456-5161
Fax: 214 456-8317
Email: maite.delamorena at utsouthwestern.edu

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, November 01, 2016 7:41 AM
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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