[CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and autoantibodies, eczema: ???IPEX

[Verbsky, James]

Our patients did have villous atrophy and lymphocytic infiltrates.  Did respond well to steroids...added tacro orally once steroids improved the bowel disease..then were able to wean off steroids and holding their own now.  

Given the autoimmune HA and thyroid antibodies..I would favor a foxp3 point mutation.  We have a patient with normal Foxp3 expression but IPEX due to a point mutation.  

Best

James

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Elif Dokmeci
Sent: Wednesday, September 26, 2012 10:19 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and autoantibodies, eczema: ???IPEX