[CIS PIDD] [cis-pidd] hypogam and abetalipoproteinemia

[Cooper, Megan]

Hi all,

Has anyone had patients with abetalipoproteinemia and hypogam?

I have a 12 mo patient with this disorder (near-absent serum lipids), who had a low IgG @ 7 months (174 mg/dL) but very robust vaccine response (S. pneumo, Hib, tetanus) and normal IgA/M.  He returns now at 12 months without infections, but with continued low IgG (144) and now low IgA (7) and IgM (9).  T/B cell counts are normal.  Fecal protein was negative.

IgG <150 with dropping A/M is starting to concern me for something beyond transient hypogam, and I'm considering the need for IVIG.  I found a case report of siblings with MTTP mutations causing abetalipoproteinemia with hypogam requiring IVIG:  Pons et al, Human Mutation, 32: 751-9, 2011, but no other case reports of this association.  This pt's MTTP genetic testing is pending.

Thanks,

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M




The materials in this email are private and may contain Protected Health Information. If you are not the intended recipient, be advised that any unauthorized use, disclosure, copying, distribution or the taking of any action in reliance on the contents of this information is strictly prohibited. If you have received this email in error, please immediately notify the sender via telephone or return email.

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=2951059
or send a blank email to leave-2951059-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150701/d2f7485b/attachment.html>