[PAGID] reticular dysgenesis/thanks!

[Chinen, Javier]

Thank you for all your useful replies.
Javier

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Sent: Friday, June 08, 2007 9:01 AM
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Subject: PAGID Digest, Vol 26, Issue 4


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Today's Topics:

   1. reticular dysgenesis (Chinen, Javier)
   2. Re: reticular dysgenesis (Cowan, Mort)
   3. R:  reticular dysgenesis (Notarangelo, Luigi)


----------------------------------------------------------------------

Message: 1
Date: Thu, 7 Jun 2007 16:55:36 -0500
From: "Chinen, Javier" <jxchinen at TexasChildrensHospital.org>
Subject: [PAGID] reticular dysgenesis
To: <pagid at list.clinimmsoc.org>
Message-ID:
	<73F55A1376C6A44998B5949372FF62510364B260 at TCCMEXV1.ad.TexasChildrensHospital.org>
	
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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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------------------------------

Message: 2
Date: Thu, 7 Jun 2007 21:45:30 -0700
From: "Cowan, Mort" <mcowan at peds.ucsf.edu>
Subject: Re: [PAGID] reticular dysgenesis
To: pagid at list.clinimmsoc.org
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	<C9564CCC68281A4698413D4293A9EC8E0676EBF7 at SOMMAIL.som.ucsf.edu>
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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
 

**Confidentiality Notice** This email communication and any attachments
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designated recipients named above. Distribution, reproduction or any
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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




CONFIDENTIALITY NOTICE:
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------------------------------

Message: 3
Date: Fri, 8 Jun 2007 07:48:28 -0400
From: "Notarangelo, Luigi" <Luigi.Notarangelo at childrens.harvard.edu>
Subject: [PAGID] R:  reticular dysgenesis
To: pagid at list.clinimmsoc.org
Message-ID:
	<A19C7A6DDA190240A51E52ABE60EE19E118C01 at CHEXV2.CHBOSTON.ORG>
Content-Type: text/plain; charset="iso-8859-1"

Alain Fischer has collected samples from a series of patients with RD, with the ultimate goal of finding the gene defect.
Obviously, the case described fits very well with that diagnosis.
You may consider approaching Alain.

Luigi D. Notarangelo
Professor of Pediatrics and Pathology, HMS
Division of Immunology, Children's Hospital
Boston


-----Messaggio originale-----
Da: pagid-bounces at list.clinimmsoc.org per conto di Cowan, Mort
Inviato: ven 08/06/2007 0.45
A: pagid at list.clinimmsoc.org
Oggetto: Re: [PAGID] reticular dysgenesis
 
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
 

**Confidentiality Notice** This email communication and any attachments
may contain confidential and privileged information for the use of the
designated recipients named above. Distribution, reproduction or any
other use of this transmission by any party other than the intended
recipient is prohibited.


-----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




CONFIDENTIALITY NOTICE:
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