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

[Verbsky, James]

Things we look for

CD25, Stat5b (should have poor mitogens, evidence of GH insensitivity in the latter)
Foxp3 (Flow +/- sequence if flow normal)
XIAP (can test NOD signaling with MDP or TriDAP)
IL-10, IL-10receptor  (IL10 suppression assay will be abnormal in the latter)
CGD (DHR)

Best
James


From: Yeşim Yılmaz Demirdağ [mailto:dryesimyilmaz at gmail.com]
Sent: Monday, October 21, 2013 9:21 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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