[CIS PIDD] [cis-pidd] Inflammatory Bowel Disease and PIDs

[Pere Soler Palacin]

Dear Yeshim, our protocol is not much different from James' one. 



1st step : 

Blood count 

IgG, IgM, IgA, IgE 

HIV testing 

DHR 



2nd step : 

CD25, FOXP3 (flow) 

XIAP (flow) 

IL-10 and IL-10r 

NK cytotoxicity (NEMO) 



STAT-5 only if short stature. 

WASp if low platelets. 

WB and genetic testing depending on previous results. 



Hope it helps. 



Pere. 



Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 
  

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Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 
  

No imprimir aquest correu ajudarà a preservar el medi ambient. 
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

----- Mensaje original ----- 
De: "James Verbsky" <jverbsky at mcw.edu> 
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Enviados: Lunes, 21 de Octubre 2013 18:41:41 
Asunto: RE: [cis-pidd] Inflammatory Bowel Disease and PIDs 




Things we look for 



CD25, Stat5b (should have poor mitogens, evidence of GH insensitivity in the latter) 

Foxp3 (Flow +/- sequence if flow normal) 

XIAP (can test NOD signaling with MDP or TriDAP) 

IL-10, IL-10receptor  (IL10 suppression assay will be abnormal in the latter) 

CGD (DHR) 



Best 

James 





From: Yeşim Yılmaz Demirdağ [mailto:dryesimyilmaz at gmail.com] 
Sent: Monday, October 21, 2013 9:21 AM 
To: CIS-PIDD 
Subject: [cis-pidd] Inflammatory Bowel Disease and PIDs 




Dear all, 


I would like to ask about your experience on when to investigate for PIDs in children with inflammatory bowel disease. We recently had an 18-month-old previously very healthy boy diagnosed with inflammatory bowel disease, he was found to have a rare mutation in FOXP3 . We are now working with the GI team to establish an algorithm and I would appreciate any input. 


Thanks 


Yeshim 








Yesim Yilmaz Demirdag, MD 


Assistant Professor of Pediatrics 


Division of Allergy and Immunology 


Columbia University Medical Center 


3959 Broadway Room 107N 


New York, MY 10032 


phone: (212) 305 2300 


e-mail: yyd2101 at columbia.edu 

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