[PAGID] options for DGS

[Salem Tamemi]

An infant had complete DiGeorge Syndrome, received bone marrow transplant
from a matched sibling donor, two years post transplant he is well and had
functional lymphocytes and maintained normal immunoglobulins level off IVIG.
The following is a link to the article from 2005 
 
http://pediatrics.aappublications.org/cgi/content/full/116/3/e457 
 
Salem Al-Tamemi, MD.FAAP.FRCPC
Consultant
Clinical Immunology & Allergy
Child Health Department 
Sultan Qaboos University Hospital 
PO Box 96
PC 123, Al-Khod
Muscat, Oman
Tel +968 99311622
Fax +968 24141136 
E-mail tamemi at squ.edu.om
 
 
 
 
 
-----Original Message-----
From: Chinen, Javier (NIH/NHGRI) [E]
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier
(NIH/NHGRI) [E]
Sent: Friday, January 26, 2007 6:31 PM
To: pagid at list.clinimmsoc.org
Subject: RE: [PAGID] options for DGS
 
I would appreciate any input regarding BMT for complete DiGeorge syndrome. I
know of the two succesful cases published in the late 80's, and one recent
report from Japan; but would like to have an idea of how many more have been
tried and how many have been unsuccesful.
We have two patients, normal T cell counts but zero naive T cells and poor
proliferation, B and NK cells present, no thymus by CT, hypocalcemia,
cardiac defects, one with typical DGS facies. One has 6/6 HLA match donor.
Both have no chromosomal abnormalities (though  very similar to the
'atypical's described by Dr. Markert), and have been negative for deletions
in the RAG genes and ADA/PNP. Multiple infections, periodic hypernatremia
likely due to anti-CMV drugs.
They are not candidates for thymus transplant (CMV infection and protocol is
closed at the moment)
 
Thanks, 
 
Javier
 
 
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