[CIS PIDD] [cis-pidd] 16y old male with severe FTT and enteropathy

[Eleonora Gambineri]

I would explore FOXP3 as well. We are becoming aware of late onset and mild cases…

BW

Eleonora


*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence 

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************





On 17/apr/2014, at 00:25, Abraham, Roshini S., Ph.D. <Abraham.Roshini at mayo.edu> wrote:


> Thanks, Kate…I forgot to mention genetic testing for STAT1, STAT5 and IL2R is pending at present.

>  

> Roshini

>  

> From: Kate Sullivan [mailto:sullivak at mail.med.upenn.edu] 

> Sent: Wednesday, April 16, 2014 5:19 PM

> To: CIS-PIDD

> Subject: Re: [cis-pidd] 16y old male with severe FTT and enteropathy

>  

> STAT1 GOF

> STAT5b

> Il2R

> 

> Kate Sullivan

> Sent from my iPhone

> 

> On Apr 16, 2014, at 6:06 PM, "Abraham, Roshini S., Ph.D." <Abraham.Roshini at mayo.edu> wrote:

> 

> This case is posted on behalf of my colleague in Pediatric GI – Dr. Mike Stephens.

>  

> Please see attached document for clinical history and relevant labs.

>  

>  

> Thanks for any advice or suggestions.

>  

> Roshini Abraham

> Mayo Clinic

> Rochester, MN

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