[CIS-PAGID] Rothmund-Thomson and CID

[Jyonouchi, Soma C]

The reference you listed is the only one I am aware of.  The RECQL4 -/-  mice can have significant thymic hypoplasia so if your patient also has a paucity of thymic tissue, you may have the same issues that arise when considering BMT for severe 22q11.2 deletion (i.e. no place for the T cells to mature).

SJ

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Pere Soler Palacin
Sent: Tuesday, February 21, 2012 8:56 AM
To: PAGID at list.clinimmsoc.org
Cc: Teresa Vendrell Bayona; alvarezbeltran at hotmail.com
Subject: [CIS-PAGID] Rothmund-Thomson and CID


Dear colleagues, we have a 2 year boy with genetically confirmed Rothmund-Thomson syndrome and profound CID (lymphopenia + hypogammaglobulinemia + diminished response to OKT3) and controlled CMV infection.

Any experience with these cases? Have you ever performed BMT in such a case?



Just found this in the pubmed DB: Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.<http://www.ncbi.nlm.nih.gov/pubmed/16630167>

Broom MA, Wang LL, Otta SK, Knutsen AP, Siegfried E, Batanian JR, Kelly ME, Shah M.

Clin Genet. 2006 Apr;69(4):337-43.



Thanks in advance.



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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