[CIS-PAGID] B cell lymphopenia and CMV associated cytopenia

[Jyonouchi, Soma C]

Also consider Dyskeratosis Congenita as it can present with B cell lymphopenia as well as anemia/thrombocytopenia.  Low NK cells are also common.

SJ

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Belohradsky, Bernd
Sent: Monday, November 15, 2010 8:43 AM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [CIS-PAGID] B cell lymphopenia and CMV associated cytopenia

autosomal-recessive agamma ?

________________________________
Von: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Pere Soler Palacin
Gesendet: Donnerstag, 11. November 2010 16:00
An: pagid at list.clinimmsoc.org
Betreff: [CIS-PAGID] B cell lymphopenia and CMV associated cytopenia

Dear all, we have a new patient (female 10 mo, without significant personal or familial history - no consanguinity-, and normal weight, height and head circumference) with  severe B cell lymphopenia  (normal total lymphocyte count with 96%CD3+ -almost all alpha-beta - 0.3% CD19+ and 2-3% CD56+) and severe CMV infection with Coombs negative anemia and thrombocytopenia. We are studying if it is congenital or not (by analysing CMV by PCR in blood spot card).

T cell functional studies loooking for maternal engraftment and hypomorphic RAG mutations are normal (although we are still considering mutational analysis).

B-cells are almost absent both in peripheral blood and bone marrow. Chest X-ray is normal.



Would you consider Good syndrome in this patient despite the fact she is only 10 months? Any other suggestion?





Waiting for your news.



Pere





Pere Soler Palacín, MD

Pediatric Infectious Diseases and Immunodeficiencies Unit.

Vall d'Hebron University Hospital

Barcelona, Spain
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