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

[CIS-PIDD]

Dear Robbie,
agree with your suspicion: APDS1/2  would be at the top of the list. In
addition, flow for switched memory B-cells and CD45RA/CCR7 could be of help
to decide if radiosensitivity genes (NHEJ/CMMRD) should be considered or
not.
All the best
Nacho

*Luis I. Gonzalez-Granado. MD.*Immunodeficiencies Unit. Hospital 12 de
octubre.Research Institute Hospital 12 octubre (i+12)
Av. Cordoba S/N. 28041. Madrid. Spain
Tel. *0034**606732959 / * 0034913908569  /  Fax 0034913908772
<0034934893039>luisignacio.gonzalez at salud.madrid.org
<luisignacio.hdoc at salud.madrid.org>ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009ResearchGate:
https://www.researchgate.net/profile/Luis_Gonzalez-Granado LinkedIn:
https://es.linkedin.com/in/nachgonzalez

2016-11-01 13:40 GMT+01:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> 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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