[CIS PIDD] [cis-pidd] ADA-SCID

[Fabian Hauck]

 Maybe you should test for somatic revertants.
Fabian Hauck, MD, PhD
University Children's Hospital Munich

Von meinem iPhone gesendet


> Am 18.12.2013 um 19:57 schrieb "Sorensen, Ricardo" <RSoren at lsuhsc.edu>:

> 

> Your idea makes sense to me too. I did not see a similar effect in 3 ADA deficient patients treated with PEG-ADA, but your kid may have gotten the wrong maternal clones.

> Have you contacted Mike Hershfield at Duke to do the metabolic studies?. Maybe he could identify a clone that produces ADA and now is no longer stopped from growing by toxic metabolites.

> 

> Ricardo.

> 

> -----Original Message-----

> From: Harville, Terry O [mailto:HarvilleTerryO at uams.edu] 

> Sent: Wednesday, December 18, 2013 12:26 PM

> To: CIS-PIDD

> Subject: RE: [cis-pidd] ADA-SCID

> 

> Kate,

> 

> That makes sense to me.

> 

> I am not sure which chimerism studies you can have performed.

> 

> We use Dynel beads and separate the cells into subpopulations then perform HLA molecular typing.

> 

> I would be happy to do this for you.

> 

> We would need cells from the baby...a buccal swab from the baby...and mothers blood or buccal swab (prefer blood).

> 

> Let me know if you would like for us to attempt this.

> 

> Terry Harville MD PhD

> -Medical Director, Special Immunology Laboratory

> -Medical Director, Histocompatibility Laboratory

> -Medical Director, Immunogenetics and Transplantation Laboratory

> -Specialist in Pediatric Immunology and Rheumatology

> Departments of Pathology and Laboratory Services and Pediatrics

> University of Arkansas for Medical Sciences

> 4301 West Markham

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> Little Rock, AR  72205-7199

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> 

> -----Original Message-----

> From: Sullivan, Kathleen [mailto:sullivak at mail.med.upenn.edu] 

> Sent: Wednesday, December 18, 2013 12:19 PM

> To: CIS-PIDD

> Subject: [cis-pidd] ADA-SCID

> 

> Hello all!

> We have a 3m old ADA SCID baby.  She presented as a typical SCID with a viral pneumonitis.  Because of some custody issues, she was not an instant BMT candidate and so was placed on PEG-ADA.  A month into the PEG-ADA, she developed what looks like GVHD.  She has a desquamative rash, slight bump in her LFTs and increasing numbers of CD4CD45RO cells.  We will get a chimerism study but it prompts me to ask- could this be a delayed maternal engagement and the maternal cells were in hibernation until we metabolically corrected the baby?

> 

> Thoughts?

> 

> Kate Sullivan

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