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

[Oliveira Filho, Joao (NIH/CC/DLM) [E]]

Itk defects should probably be ruled out also.
Bosco


Joao Bosco Oliveira, MD PhD
Head, Human Disorders of Lymphocyte Homeostasis Unit
Assistant Chief, Immunology Service
Department of Laboratory Medicine
NIH Clinical Center
Building 10, Room 2C410
10 Center Drive
Bethesda, MD 20892
Tel: 301 594-1971
Fax: 301 402-1884








On 11/15/11 10:48 AM, "Sergio Rosenzweig" <srosenzweig at garrahan.gov.ar> wrote:

Pere,
Did you check PNP/uric acid? We had a very similar family when I was in Buenos Aires where I completely missed the diagnosis. Fortunately it was picked up at a second round of studies by another colleague.
Sergio

Sergio D. Rosenzweig, MD, PhD
Chief, Infectious Diseases Susceptibility Unit
Laboratory of Host Defenses, NIAID, NIH
10 Center Dr., Bldg. 10, CRC 5W-3888
Bethesda, MD 20892-1456
Phone (301) 451 8971
Fax (301) 451 7901
Cell (240) 361 7617
Pager 102 10678
srosenzweig at niaid.nih.gov

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>>> Pere Soler Palacin  11/14/11 9:11 PM >>>

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/> .

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