Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood - 18/04/17
Doi : 10.1016/j.jaci.2016.06.050
Glynis Frans, MPharm a, Leen Moens, PhD a, Heidi Schaballie, MD b, c, Greet Wuyts, BSc a, Adrian Liston, PhD d, Koen Poesen, MPharm, PhD e, Ann Janssens, MD, PhD f, Gillian I. Rice, PhD g, Yanick J. Crow, MD, PhD g, h, i, Isabelle Meyts, MD, PhD b, c, ∗, Xavier Bossuyt, MD, PhD a, e, ∗ 
a Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium
b Department of Microbiology and Immunology, Childhood Immunology, KU Leuven, Leuven, Belgium
c Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
d Department of Microbiology and Immunology, Autoimmune Genetics, KU Leuven and VIB, Leuven, Belgium
e Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium
f Department of Hematology, University Hospitals Leuven, Leuven, Belgium
g Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Centre, Manchester, United Kingdom
h INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France
i Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France
| This work was supported by a Geconcerteerde Onderzoeksactie grant from the Research Council of the Catholic University of Leuven, Belgium. I.M. is supported by a Klinisch Onderzoeksfonds mandate of the KU Leuven, Belgium. |
|
| Disclosure of potential conflict of interest: G. Frans and X. Bossuyt received grants from GOA. H. Schaballie received grants from the Research Foundation Flanders. A. Janssens received consultancy fees from Gilead, Janssen, Sanofi, and Amgen and lecture fees from Roche, Janssen, and Gilead. I. Meyts received unrestricted research grant (US $10,000/y) from CSL Behring (paid to hospital) and Jeffrey Modell Foundation Baxalta (US $10,000/y). The rest of the authors declare that they have no relevant conflicts of interest. |
© 2016
American Academy of Allergy, Asthma & Immunology. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 139 - N° 1
P. 360 - janvier 2017 Retour au numéro
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