[PAGID] two questions on enteritis

[Eleonora Gambineri]

Dear Jean,

2 males affected in the family strongly  suggests an X-linked  
inheritance. Any other details on the family history?

The phenotype sounds suggestive of  IPEX  therefore I would surely  
look for FOXP3 mutations first if you haven't done it yet. FOXP3  
expression at flow might be helpful too, although normal FOXP3  
expression doesn't rule out the disease and flow cytometry should not  
be the only diagnostic tool.

Any more info on labs? What about IgE? Any autoantibodies?

Hope this helps!

Best wishes,

*******************************************************************
Dott.ssa Eleonora Gambineri
Ricercatore Universitario
Universita' degli Studi di Firenze
Dipartimento di Pediatria-Ospedale Pediatrico "Anna Meyer"
Viale Gaetano Pieraccini, 24
50139 FIRENZE
Tel 055 5662405 (ufficio)
        055 5662464 (lab)
Fax 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

Eleonora Gambineri, MD
Researcher/Assistant Professor
University of Florence
Department of Pediatrics-"Anna Meyer" Children's Hospital
Viale Gaetano Pieraccini, 24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)
        +39 055 5662464 (lab)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************





On 25/giu/09, at 23:45, YaeJean Kim wrote:


> 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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