[CIS PIDD] [cis-pidd] Inflammatory Bowel Disease and PIDs

[Yeşim Yılmaz Demirdağ]

Hi Lisa,
The expression was abnormal in our case. The mother is a carrier and
asymptomatic so far. The patient does not have any siblings, but mom is
pregnant with a girl. There is one case report with the same mutation
associated with inflammatory bowel and arthritis all started in the second
decade. Our case is otherwise asymptomatic, there is no history of skin
involvement, no other autoantibodies, and no infections.
Thanks for your suggestions.
Best,
Yesim


Yeşim Yilmaz Demirdag, MD

Assistant Professor of Pediatrics

Division of Allergy and Immunology

Columbia University Medical Center

3959 Broadway Room 107N

New York, MY 10032

phone: (212) 305 2300

e-mail: yyd2101 at columbia.edu




On Mon, Oct 21, 2013 at 1:57 PM, Kobrynski, Lisa <lkobryn at emory.edu> wrote:


>  Yesim

>

>

>

> Do you know if the mutation is predictive of an abnormal or absent protein?

>

> Are there any other siblings? Have they been tested to see if they carry

> the same mutation?  How about the mother?

>

> We have a family of 3 boys with IPEX with a rather unusual mutation and

> one developed very severe bowel disease (late onset) and our GI researchers

> did whole exome sequencing to see if he had any other mutations associated

> with IBD and did not find anything.  The mother is a carrier for the

> mutation as well and interestingly has bowel disease (she even had a

> colostomy). But, they do express protein.  So there may be other genes

> modifying the expression of FOXP3 and it makes sense to look at other genes

> known to be involved in intestinal inflammation with IBD as well as those

> involved in the other pathways mentioned below.

>

>

>

> Lisa

>

>

>  Lisa Kobrynski, MD, MPH

> Associate Professor of Pediatrics

> Marcus Professor of Immunology

> Section, Allergy/Immunology

>   ------------------------------

> *From:* Yeşim Yılmaz Demirdağ [dryesimyilmaz at gmail.com]

> *Sent:* Monday, October 21, 2013 10:21 AM

>

> *To:* CIS-PIDD

> *Subject:* [cis-pidd] Inflammatory Bowel Disease and PIDs

>

>   Dear all,

> I would like to ask about your experience on when to investigate for PIDs

> in children with inflammatory bowel disease. We recently had an

> 18-month-old previously very healthy boy diagnosed with inflammatory bowel

> disease, he was found to have a rare mutation in *FOXP3*. We are now

> working with the GI team to establish an algorithm and I would appreciate

> any input.

> Thanks

> Yeshim

>

>

>  Yesim Yilmaz Demirdag, MD

> Assistant Professor of Pediatrics

> Division of Allergy and Immunology

> Columbia University Medical Center

> 3959 Broadway Room 107N

> New York, MY 10032

> phone: (212) 305 2300

> e-mail: yyd2101 at columbia.edu

>

> ---

>

> The CIS-PIDD listserv is supported by:

>

>

> *The science & practice of human immunology*

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup>to join!

>

> You are currently subscribed to cis-pidd as: lkobryn at emory.edu.

> To unsubscribe click here:

> http://lm.clinimmsoc.org/u?id=183824542.3201f5eed0ab3c3c73bfa5803d66dafd&n=T&l=cis-pidd&o=43996731

>

> ------------------------------

>

> This e-mail message (including any attachments) is for the sole use of

> the intended recipient(s) and may contain confidential and privileged

> information. If the reader of this message is not the intended

> recipient, you are hereby notified that any dissemination, distribution

> or copying of this message (including any attachments) is strictly

> prohibited.

>

> If you have received this message in error, please contact

> the sender by reply e-mail message and destroy all copies of the

> original message (including attachments).

>

> ---

>

> The CIS-PIDD listserv is supported by:

>

>

> *The science & practice of human immunology*

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org<https://cis.execinc.com/edibo/Signup>to join!

>

> You are currently subscribed to cis-pidd as: dryesimyilmaz at gmail.com.

> To unsubscribe click here:

> http://lm.clinimmsoc.org/u?id=190894908.6076a8fe7beb8b98417225f54ae97d80&n=T&l=cis-pidd&o=43997352

>

>


---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=44000722
or send a blank email to leave-44000722-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20131022/f4058be9/attachment.html>