Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family - 02/09/13
Doi : 10.1016/j.jaci.2013.03.038
Laia Alsina, MD, PhD a, ∗, Eva González-Roca, PhD b, ∗, María Teresa Giner, MD a, Mónica Piquer, MD a, Irene Puga, PhD c, Mariona Pascal, PhD b, Estibaliz Ruiz-Ortiz, PhD b, Isabel Badell, MD, PhD d, María Anunciación Martín-Mateos, MD, PhD a, Andrea Cerutti, MD c, Manel Juan, MD, PhD b, Jordi Yagüe, MD, PhD b, Ana M. Plaza, MD, PhD a, Juan I. Aróstegui, MD, PhD b 
a Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain
b Immunology Department, Hospital Clínic, IDIBAPS, Universitat de Barcelona, Barcelona, Spain
c Institut Municipal d'Investigació Mèdica, Hospital del Mar, Barcelona, Spain
d Pediatrics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
| This study was supported by Ministerio de Sanidad y Consumo grants FIS PS09/01182 (to J.Y.) and FIS PI10/01404 (to M.J.). |
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| Disclosure of potential conflict of interest: M. Juan has received grants from ISCIII. The rest of the authors declare that they have no relevant conflicts of interest. |
© 2013
American Academy of Allergy, Asthma & Immunology. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 132 - N° 3
P. 741 - septembre 2013 Retour au numéro
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