[PAGID] options for DGS

[Luigi Notarangelo]

Dear Javier,

while in Brescia, I have transplanted one child with complete DGS, using
unmanipulated bone marrow for a matched sibling. At 15 years after
transplant, the patient is well, with no signs of immune deficiency, and
normal T cell counts. However, it should be noted that TREC levels remain
extremely low, and that immune reconstitutiona has been provided by
engrafted post-thymic cells, which is what you expect with BMT for complete
DGS.
I  would consider stem cell transplantation for complete DGS only if a
fully-matched donor is avaliable, so that no T-cell depletion is required.

Regards

Luigi Notarangelo
Children¹s Hospital, Boston
tel: 617-919-2276
FAX:617-730-0709


On 1/26/07 9:30 AM, "Chinen, Javier (NIH/NHGRI) [E]" <jchinen at nhgri.nih.gov>
wrote:


> 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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