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

[Kobrynski, Lisa]

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<mailto:yyd2101 at columbia.edu>

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