[CIS-PAGID] Though case, but not that much

[Patsy Giclas]

From: Pere Soler Palacin <psoler at vhebron.net>
Reply-To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>
Date: Fri, 30 Mar 2012 07:31:17 -0600
To: PAGID <PAGID at list.clinimmsoc.org>
Subject: [CIS-PAGID] Though case, but not that much

Dear all, we just want to update you about our patient and thank you all for
your helpful comments. As some of you recommended, we tested both RAG 1/2
and SAP genes. We found no mutations in RAG2 and SAP genes but double
heterozygous mutations c.2917C>T / p.Arg973Cys DELETERIOUS (polyphen2) and
c.1566G>T / p.Trp522Cys. DELETERIOUS (described in RAPID) have been
demonstrated in RAG1 gene.

Therefore, the patient is already waiting for a HSCT.

 

We just wanna thank you again for your help.

 

Pere.



Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and
Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.    Assistant
Professor. Universitat Autònoma de Barcelona.
Passeig de la Vall d'Hebron 119-129.
08035 Barcelona. Spain.
Tel: 0034934893140. Fax: 0034934893039.
E-mail: psoler at vhebron.net <mailto:psoler at vhebron.net> ; 34660psp at comb.cat
<mailto:34660psp at comb.cat> . Web: www.upiip.com <http://www.upiip.com/> .
 

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