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

[Verbsky, James]

Elif

Did they stain for CD25 on the Foxp3 analysis?  If there is detectable CD25 and the mitogens are normal (should be absent in CD25 deficiency)..CD25 is unlikely.  Not sure if Stat5b gives you normal mitogens or not...I would expect to be abnormal but hard to predict since there are two Stat5 genes.  The Stat1 sequencing is a good idea.

Foxp3 sequence will be informative.  Is the patient on just Tacro or other immunosuppressants also (steroids??).  We have seen a couple of kids with early onset autoimmune enteropathy and eczema...workup was negative..improved on steroids and CSA/tacro...have stabilized and are doing better....one is now on rapamycin and doing well.    

Ive always wondered about CTLA4 deficiency or TGF-b1 deficiency..in mice they look like IPEX..long shots but they have to be out there 

Best

james 


James W. Verbsky MD/PhD
Associate Professor of Pediatrics and Medical Microbiology and Genetics
Medical College of Wisconsin
Milwaukee, WI  53211
jverbsky at mcw.edu
414-266-6701 (phone)
414-266-6695 (fax)



-----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 5:12 PM
To: pagid at list.clinimmsoc.org
Subject: [CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and autoantibodies, eczema: ???IPEX