[PAGID] options for DGS

[Richard Hong]

There is another case of DGA treated with "BMT"--actually it was a 
peripheral blood infusion. The reference is Lancet 1998, 352:1983. The lead 
author is Bowers DC. The patient was infused at the Johns Hopkins Hosp. 
Jerry Winkelstein might be able to give you a follow up.
I was delighted to see that Luigi had done Trecs on his patient. I tried to 
get samples from the US transplants, but they seem to have been lost to 
follow up. I think the long term outcome for these patients will be 
problematic, but it is shows the amazing potential of "long lived" T lymphs.
I am unclear as to why your pt is not a candidate for thymus transplant. If 
anything, I would think that the transplant would help the CMV infection. It 
certainly will not aggravate it in any way.
Dick Hong
University of Vermont
----- Original Message ----- 
From: "Chinen, Javier (NIH/NHGRI) [E]" <jchinen at nhgri.nih.gov>
To: <pagid at list.clinimmsoc.org>
Sent: Friday, January 26, 2007 9:30 AM
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