[PAGID] two questions on enteritis

[Verbsky, James]

Several ideas.  First if the Foxp3 was negative, that doesnt mean he expresses it.  I would talk with Troy Torgerson in Seattle who can work this up.  Also..CD25 deficiency can look like this..is there detectable CD25 on flow cytometry?

Finally I will echo Dr Sullivans comments..contact Bodo Grimbacher as he has kids with severe colitis and he might shed some light on your patient.

Best

James


James W. Verbsky M.D./Ph.D.
Assistant Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Children's Corporate Center
Pediatric Rheumatology, Suite C465
9000 W. Wisconsin Ave., PO Box 1997
Milwaukee, WI 53201-1997
(work) 414-266-6585
(pager) 414-907-3134
(fax) 414-266-6695
jverbsky at mcw.edu<mailto:jverbsky at mcw.edu>
verbskyj at yahoo.com<mailto:verbskyj at yahoo.com>



________________________________
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of YaeJean Kim
Sent: Thursday, June 25, 2009 4:46 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] two questions on enteritis

Dear all,

I am YaeJean Kim who attended the 2007 PID summer school while I was a fellow in Seattle and now am relocated to Seoul, Korea.

I see a patient in my institute and have questions as below.

This is a now 18 month boy who is suspected for IPEX or IPEX like syndrome. He has had intractable diarrhea, recurrent infections including pneumonia and anal infection, fistula, hypothyroidism (only endocrinopathy manifestiation he has) since age of 1 month. His brother died too with similar features.

He was initially presented with failure to thrive. Intestinal biopsy (at the age of 7 mo) was suspected for IPEX but FOXP3 mutation was not observed. Because of severe anal fistula, he received cecostomy. He is now on azathioprine by our GI guy who is the main doctor for him. He still seems to have frequent infection with fevers and get hospitalized for antibiotics. Do you have any suggestions? Or should we repeat the test? All the tests were done about 10 months ago.

I would appreciate any feedback. Thanks a lot.


Jean

--------------------------------------------

YaeJean Kim, MD

Assistant Professor
50 Ilwon-dong Gangnam-gu
Division of Infectious Diseases
Department of Pediatrics
Samsung Medical Center
Sunggyungwan University
Seoul, 135-710
South Korea
tel) 82-2-3410-3539, 0987
fax) 82-2-3410-0043
yaejeankim at skku.edu

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