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

[Carsten Speckmann]

Hello,

I would not be too surprised if this is caused by autoreactive T cells of the patient.
Autoimmune cytopenias are a well known complication after initiation of PEG-ADA - and I think also any other autoimmune manifestion (as in late-onset ADA patients) could be induced under enzyme replacement therapy.
We had one SCID patient who developed severe autoimmune enteropathy under ERT. He had massive T cell infiltrates in the gut, XY FISH suggested that these were of patient and not mother origin.
This enteroptahy did not response to steroids and we initiated ATG ahead of his regular HSCT conditioning regimen. He eventually received a MUD transplant and survived (after a prolonged episode of AIHA during SCT).

Carsten Speckmann 
-- 
Dr. med. Carsten Speckmann 
Funktionsoberarzt / Consultant Immunologist
Zentrum fuer Kinderheilkunde und Jugendmedizin 
Centrum fuer Chronische Immundefizienz - CCI 
Universitaet Freiburg 
Mathildenstr. 1 
79106 Freiburg 
Germany 

phone: +49 (0)761-270 43010
fax: +49 (0)761-270 45990 
carsten.speckmann at uniklinik-freiburg.de 
www.cci.uniklinik-freiburg.de

Am 18.12.2013 um 19:18 schrieb Sullivan, Kathleen <sullivak at mail.med.upenn.edu>:


> 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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