Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy - 27/06/13
Doi : 10.1016/j.jaci.2012.11.006
Joyce Geelen, PhD a 
, Rolph Pfundt, PhD b, Judith Meijer, BASc c, Frans W. Verheijen, PhD d, Andre B.P. van Kuilenburg, PhD c, Adilia Warris, PhD a, e, Carlo Marcelis, MD b
, Rolph Pfundt, PhD b, Judith Meijer, BASc c, Frans W. Verheijen, PhD d, Andre B.P. van Kuilenburg, PhD c, Adilia Warris, PhD a, e, Carlo Marcelis, MD b a Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
b Department of Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
e Nijmegen Institute for Infection, Inflammation and Immunity, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
c Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
d Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
| Disclosure of potential conflict of interest: F. W. Verheijen is on the Actelion board. A. Warris has received consultancy fees from Gilead and Pfizer; has received research support from Gilead, Pfizer, and MSD; and has received payment for development of educational presentations from Pfizer. 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° 1
P. 222-223 - juillet 2013 Retour au numéro
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