Heterozygous IKK? activation loop mutation results in a complex immunodeficiency syndrome - 04/02/21
Doi : 10.1016/j.jaci.2020.06.007
Jordan Abbott, MD, MA a, b, c 
, Angelica C. Ehler, BS b, c, Divya Jayaraman, MD a, Paul R. Reynolds, PhD a, Kanao Otsu, MD, MPH d, Laurie Manka, MD d, Erwin W. Gelfand, MD a
, Angelica C. Ehler, BS b, c, Divya Jayaraman, MD a, Paul R. Reynolds, PhD a, Kanao Otsu, MD, MPH d, Laurie Manka, MD d, Erwin W. Gelfand, MD a a National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, Denver, Colo
b Section of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colo
c Children’s Hospital of Colorado Aurora, Colo
d Department of Medicine, National Jewish Health, Denver, Colo
| Supported by NIAID/NIH K08AI141734 (to J.A.). |
|
| Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest to disclose. |
© 2020
The Authors. Pubblicato da Elsevier Masson SAS. Tutti i diritti riservati.
Vol 147 - N° 2
P. 737 - Febbraio 2021 Ritorno al numero
Articolo precedente
- Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
- Mathieu Fusaro, Jérémie Rosain, Virginie Grandin, Nathalie Lambert, Sylvain Hanein, Cécile Fourrage, Nicholas Renaud, Marine Gil, Samuel Chevalier, Wadih Abou Chahla, Brigitte Bader-Meunier, Vincent Barlogis, Stéphane Blanche, David Boutboul, Martin Castelle, Thibault Comont, Jean-Sébastien Diana, Claire Fieschi, Lionel Galicier, Olivier Hermine, Alain Lefèvre-Utile, Marion Malphettes, Etienne Merlin, Eric Oksenhendler, Marlène Pasquet, Felipe Suarez, Isabelle André, Vivien Béziat, Geneviève De Saint Basile, Jean-Pierre De Villartay, Sven Kracker, Chantal Lagresle-Peyrou, Sylvain Latour, Frédéric Rieux-Laucat, Nizar Mahlaoui, Christine Bole, Patrick Nitschke, Elisabeth Hulier-Ammar, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcais, Guillaume Vogt, Jacinta Bustamante, Capucine Picard
- DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
- Benjamin Fournier, Maud Tusseau, Marine Villard, Christophe Malcus, Emilie Chopin, Emmanuel Martin, Debora Jorge Cordeiro, Nicole Fabien, Mathieu Fusaro, Alexandra Gauthier, Nathalie Garnier, David Goncalves, Sonia Lounis, Christelle Lenoir, Anne-Laure Mathieu, Marion Moreews, Magali Perret, Capucine Picard, Cécile Picard, Françoise Poitevin, Sébastien Viel, Yves Bertrand, Thierry Walzer, Alexandre Belot, Sylvain Latour
Benvenuto su EM|consulte, il riferimento dei professionisti della salute.
L'accesso al testo integrale di questo articolo richiede un abbonamento.
Già abbonato a @@106933@@ rivista ?