[CIS-PAGID] mature B-cell lymphoma, EBV and SCID?

[Pere Soler Palacin]

No, only genetically tested. Anyway I'll confirm it my colleagues in the lab. 



P. 


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: "John Ziegler" <j.ziegler at unsw.edu.au> 
Para: pagid at list.clinimmsoc.org 
CC: "Paul Gray" <Paul.Gray at SESIAHS.HEALTH.NSW.GOV.AU> 
Enviados: Martes, 15 de Noviembre 2011 3:45:35 
Asunto: Re: [CIS-PAGID] mature B-cell lymphoma, EBV and SCID? 




Pere 



Have you checked CD127 expression? 



John 





From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Pere Soler Palacin 
Sent: Tuesday, 15 November 2011 1:11 PM 
To: pagid at list.clinimmsoc.org 
Subject: [CIS-PAGID] mature B-cell lymphoma, EBV and SCID? 




Dear colleagues, we would appreciate your help in a though case currently admitted to our center. 

It’s a 7 month-old boy with no significant medical history. He was sent to our clinics because of an older brother who died in another center at the age of 3 years due to a B-mature cell lymphoma with sudden evolution. Previous diagnosis included recurrent acute bronchitis with bronchiectasis and perianal fistula. Since EBV was detected  both in blood and lymphoma samples, our first clinical suspicion was XLP but both SAP and XIAP were genetically tested in the deceased brother and were normal. Serum immunoglobulin levels during acute infection and lymphoma were normal/increased and significant CD4/CD8 inverted ratio was observed and attributed to on going viral infection. No other immunological tests were performed. 



When first studied, the “healthy brother” did not present any abnormality at PE and immunological tests revealed the following results: 

Total lymphocyte count: 1300/mm3. 

Serum immunoglobulins: IgG 308 mg/dl, IgA <10 mg/dl, IgM 36 mg/dl 

Immunophenotyping: CD3+ 17%, CD3+CD4+ 16%, CD3+CD8+ 0.9%, CD19+ 62% CD56 + 12% (repeated and confirmed). TCR alpha/beta in CD4+ 99%. CD4+ CD45RO 42%. 

Response to mitogens was severely decreased (my apologies since I’ve no the exact data here) and thymic shadow was absent in chest X- Ray. 



T-B+NK+  SCID? 



ZAP-70 expression was normal, IL-7R deficiency was genetically tested and negative and CD3 gamma-R was ruled out since alpha-betaTCR percentage was normal. 



Any other idea? 



Many thanks in advance, 



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 . 
  

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. 

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