[PAGID] reticular dysgenesis

[Cowan, Mort]

Here is some contact information that I got from Trudy Small a few years
ago regarding someone who is studying RD.

Prof. Karen B. Avraham
Dept. of Human Genetics & Molecular Medicine
Sackler School of Medicine
Tel Aviv University
Ramat Aviv, Tel Aviv  69978
Tel: 972-3-640-7030
Fax: 972-3-640-9360
Email: karena at post.tau.ac.il

Mort

Morton J. Cowan, M.D.
Professor of Pediatrics
Chief, BMT Division
UCSF Children's Hospital, Room M659
505 Parnassus Ave
San Francisco, CA 94143-1278
 
Phone: 415-476-2188
FAX: 415-502-4867
 

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-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier
Sent: Thursday, June 07, 2007 2:56 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] reticular dysgenesis



Dear all, 

We have in our service a 1 mo baby girl, with severe neutropenia
(unresponsive to GCSF), normal lymphocyte counts, all B cells absence of
T cells, and sensorineural deafness. Presented with omphalitis. No
positive family history. BM aspiration shows absence of myeloid
precursors and presence of erythroid and megakarioblastoid lineages. The
working diagnosis is reticular dysgenesis. 
 I was wondering if anyone in this forum knows about research being done
for this condition, and if there are any other thoughts regarding the
diagnosis of this baby.
MUD HSCT is being pursued.
Thanks,

Javier




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