[PAGID] two questions on enteritis

[Torgerson, Troy]

YaeJean,

 

IPEX is certainly a good initial thought given his symptoms but I would include a couple of other disorders:

First, for IPEX:  Has he had eczema or other rash?   Has he had other autoimmunity as well (hemolytic anemia, thrombocytopenia, liver disease, etc.)?  Most of the pts with FOXP3 mutations have other autoimmune manifestations in addition to the enteropathy, eczema, and endocrinopathy.  Have you been able to get flow cytometry done to see if he has FOXP3+ cells in his CD4+ population, would also look at CD25 expression by flow to make sure it is there (see James' comment)?  When they sequenced FOXP3, do you know what they sequenced and how much of the gene they looked at?  About 5% of the mutations we have identified are in non-coding regions of the gene (polyadenylation site or upstream non-coding region).  If they sequenced genomic DNA did they look at all of the exon/intron junctions to rule out a splicing mutation or did they sequence cDNA?  

 

Second, Leaky SCID:  Some Leaky SCID/Omenn or maternally engrafted SCID patients can look a lot like IPEX.  Pts with IPEX can get infections for sure but pneumonias are not all that common and "frequent" infections are not all that common.  What are the T/B/NK numbers?  Are they his T/B/NK cells or his mom's?  Do his T cells proliferate to mitogens/antigens?  Do you know whether his T cells are mostly CD45RA+ (naïve) or CD45RO+ (mature)? - leaky SCID's & maternally engrafted SCID's are usually very skewed to CD45RO+.  Are his parents consanguineous? 

 

Third, CGD:  Incidence of IBD/IBD-like symptoms is very high in CGD and we recently saw an infant here in Seattle with initial presentation of early onset "Crohn's" disease with granulomatous lesions on biopsy that has X-CGD.  Pneumonia also common in CGD.  Would check neutrophil oxidative burst as this would dramatically alter the therapeutic approach.

 

Best,

 

TT

 

Troy R. Torgerson, MD PhD

 

Assistant Professor, Pediatric Immunology/Rheumatology

University of Washington, Department of Pediatrics

 

Co-Director, Immunology Diagnostic Laboratory

Center for Immunity and Immunotherapies

Seattle Children's Research Institute

1900 9th Ave., C9S-7

Seattle, WA  98101-1305

 

Tel:  (206) 987-7450

Fax:  (206) 987-7310

 

Email:  Troy.Torgerson at seattlechildrens.org

 

________________________________

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of YaeJean Kim
Sent: Thursday, June 25, 2009 2:46 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

 

Children's Hospital and Regional Medical Center is now Seattle Children's.
CONFIDENTIALITY NOTICE:  This e-mail message, including any attachments, is for the sole use of the intended recipient(s) and may contain confidential and privileged information protected by law.  Any unauthorized review, use, disclosure or distribution is prohibited.  If you are not the intended recipient, please contact the sender by reply e-mail and destroy all copies of the original message.
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090625/035a13c8/attachment.html>