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

[Dr. Carsten Speckmann]

  Pere,

Besides leaky SCID, MAGT1 / XMEN (Nature 2011 vol. 475 (7357) pp. 
471-476), might be another differential to consider in a boy with EBV, 
lymphoma and low CD4 (also this seems to vary in the reported familiy 
),  if SAP deficiency is excluded. Carsten


Am 15.11.11 09:55, schrieb Pere Soler Palacin:

>

> Dear all, first of all my apologies since CD127 was studied using flow 

> cytometry and was normal.

>

> Stephan: No IBD, it was just perianal fistula. I've no data on 

> lymphocyte subsets. Only CD4 and CD8 were studied and, as I said, 

> there was a significant decrease in CD4 counts with inverted CD4/CD8 

> ratio. My apologies again (it was performed in another centre).

>

> 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 <mailto:psoler at vhebron.net>; 

> 34660psp at comb.cat <mailto:34660psp at comb.cat>. Web: www.upiip.com 

> <http://www.upiip.com/>.

>

>

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>

>

> ----- Mensaje original -----

> De: "stephan ehl" <stephan.ehl at uniklinik-freiburg.de>

> Para: "pagid" <pagid at list.clinimmsoc.org>

> Enviados: Martes, 15 de Noviembre 2011 7:58:42

> Asunto: Re: [CIS-PAGID] mature B-cell lymphoma, EBV and SCID?

>

> Pere, since it would be a leaky form anyway, also consider the T-NK- 

> variants. IBD or just a perianal fistula? Total NK,B,T counts in the 

> sib? SE

>

> ------------------------------------------------------------------------

>

> *  Von: *Pere Soler Palacin [psoler at vhebron.net]

> *  Gesendet: *15.11.2011 03:10 CET

> *  An: *pagid at list.clinimmsoc.org

> *  Betreff: *[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 <mailto:psoler at vhebron.net>; 

> 34660psp at comb.cat <mailto:34660psp at comb.cat>. Web: www.upiip.com 

> <http://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.

>

>



-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


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