[PAGID] options for DGS

[Chinen, Javier]

Thank you for your responses.
Allow me to summarize. It seems that we don't have cases known to this forum, in which BMT has been of no help for complete DGS (4 cases unmanipulated BMT and one peripheral blood). The concept of grafting commited T cells rather than hematopoetic stem cells needs to be clear. That in a way addresses the efficacy aspect. 
Regarding the safety aspects, one issue to consider is that because our two patients have T cells, in order to reduce the chance of rejection, the BMT strategy may need to include the use of immunosuppressive agents (ATG?), which has the risk of losing the control of the CMV infection. The case described in Japan reported obtaining engraftment using conditioning, though they don't comment on CMV. Exacerbation of CMV infection is also Dr. Markert's concern for the thymus transplant protocol, which uses ATG.
In general, however, we keep in perpective that CMV infection and its complications most likely will progress in these patients without adequate cellular immune function, despite antiviral treatment.
Javier




   1. Re: options for DGS (Richard Hong)


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Message: 1
Date: Sun, 28 Jan 2007 20:56:13 -0500
From: "Richard Hong" <rhong at uvm.edu>
Subject: Re: [PAGID] options for DGS
To: <pagid at list.clinimmsoc.org>
Message-ID: <005b01c74348$a7d94990$e6a3444b at Deek>
Content-Type: text/plain; format=flowed; charset="iso-8859-1";
	reply-type=original

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





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