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

[Juan Carlos Aldave Becerra]

I agree with Dr. Bosco. Although I don't have as much experience as you and the other professors, I think Magnesium defects may be considered.
Juan Carlos AldaveClinical ImmunologistLim-Peru

Date: Tue, 15 Nov 2011 03:10:48 +0100
From: psoler at vhebron.net
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. 

 
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