[PAGID] options for DGS

[Chinen, Javier (NIH/NHGRI) [E]]

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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