Combined immunodeficiency associated with homozygous MALT1 mutations - 27/04/14
Doi : 10.1016/j.jaci.2013.10.045
Margaret L. McKinnon, MD a, ∗, Jacob Rozmus, MD b, ∗, Shan-Yu Fung, PhD b, ∗, Aaron F. Hirschfeld, MSc b, Kate L. Del Bel, MSc b, Leah Thomas, BSc b, Nico Marr, Dr rer nat b, Spencer D. Martin, BSc c, Ashish K. Marwaha, BM, BCh d, John J. Priatel, PhD d, Rusung Tan, MD, PhD d, Christof Senger, MD d, Angela Tsang, BSc d, Julie Prendiville, MD b, Anne K. Junker, MD b, Michael Seear, MB, ChB b, Kirk R. Schultz, MD b, Laura M. Sly, PhD b, Robert A. Holt, PhD c, Millan S. Patel, MD, MSc a, Jan M. Friedman, MD, PhD a, Stuart E. Turvey, MBBS, DPhil b 
a Department of Medical Genetics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
b Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
c Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada
d Department of Pathology and Laboratory Medicine, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
| J.R. is a Vanier Canada Graduate Scholar. S.E.T. holds the Aubrey J. Tingle Professorship in Pediatric Immunology and is a clinical scholar of the Michael Smith Foundation for Health Research. This work was supported in part by funding from the Canadian Institutes of Health Research Team in Mutagenesis and Infectious Diseases, the BC Clinical Genomics Network, and the Rare Disease Foundation. |
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| Disclosure of potential conflict of interest: J. J. Priatel has received research support from the Canadian Institute of Health Research (grant title: “Understanding the Novel Human Primary Immunodeficiency Caused by MALT1 Mutations” and “Immune Functions of CLEC16A and Its Roles in Autoimmune Diabetes”). L. M. Sly has received salary awards from the Michael Smith Foundation for Health Research, the Canadian Institutes of Health Research, and the Canadian Association of Gastroenterology. R. A. Holt has received cost recovery for genome data generation from the BC Clinical Genomics Network. 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 133 - N° 5
P. 1458 - mai 2014 Retour au numéro
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