[CIS PIDD] [cis-pidd] HSCT experience in prolidase deficiency?

Mon Jan 26 02:15:03 EST 2015

No cases in BCN. 
Warm regards, 

P. 

Pere Soler Palacín, MD, PhD. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'He bron     
Assistant Professor. Universitat Autònoma de  Barcelona (UAB)                                                        
Pg. de la Vall d'Hebron, 119-129 
08035 Barcelona. Spain. 
Tel. 0034934893140  /   Fax 0034934893039 

psoler at vhebron.net  /   34660psp at comb.cat 
Web: www.upiip.com 
ORCID ID: http://orcid.org/0000-0002-0346-5570 
Scopus Author ID: http://www.scopus.com/authid/detail.url?authorId=55923378300 
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin 
Linked In : http://es.linkedin.com/pub/pere-soler-palac%C3%ADn/73/918/b16 

No imprimir aquest correu ajudarà a preservar el medi ambient. 
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

----- Missatge original -----

De: "Carsten Speckmann" <carsten.speckmann at uniklinik-freiburg.de> 
Per: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 
Enviats: Dilluns, 26 de Gener 2015 0:03:05 
Assumpte: [cis-pidd] HSCT experience in prolidase deficiency? 

Dear all, 

some of you may have received this request already via the IEWP mailing list.  
So far the feedback was limited, but maybe some of you have experience with this rare disorder? 

We are seeing a 4y/o boy with a very severe course of prolidase deficiency - a rare connective tissue disorder.  

I wonder about the HSCT experience for this disease within the CIS community.  

In literature there is one reported HSCT case (Caselli et al) with promising initial results, but the patient deceased around d+100 from infectious complications. 
I have recently heard about one successfully treated pt (still awaiting more details). 

Gene therapy or enzyme replacement therapy has been discussed in literature, but (to my knowledge) is not available at present.  
I wonder whether  HSCT might be a considerable option in severely affected  patients. Any center experience with this? 

Thanks a lot, best wishes Carsten Speckmann 

--  
Dr. Carsten Speckmann 
Pediatrician 
Group Leader: Benign lymphoproliferative disorders 
Pediatric Hematology and Oncology 
and Center for Chronic Immunodeficiency 
University of Freiburg 
Germany 
phone: +49 (0)761 270 43010 
fax: +49 (0)761 270 45990 
www.uniklinik-freiburg.de/cci/studien/alps.html 

--- 

The CIS-PIDD listserv is supported by: 

The science & practice of human immunology 

P: +1.414.224.8095 
E: info at clinimmsoc.org 

Not a member of CIS? Please visit www.clinimmsoc.org to join! 

You are currently subscribed to cis-pidd as: psoler at vhebron.net . 
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183824761.73091a40f7bf46d8490bc6c1b5779db2&n=T&l=cis-pidd&o=45996621 

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45998024
or send a blank email to leave-45998024-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150126/77d34de5/attachment-0001.html>