Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing - 04/02/21
Doi : 10.1016/j.jaci.2020.05.046
Mathieu Fusaro, PharmD, MSc a, b, c, Jérémie Rosain, PharmD, MSc a, b, d, Virginie Grandin, MSc b, Nathalie Lambert, MSc b, Sylvain Hanein, PhD e, Cécile Fourrage, PhD e, f, g, Nicholas Renaud, MSc e, Marine Gil, MSc a, Samuel Chevalier, AS b, Wadih Abou Chahla, MD h, Brigitte Bader-Meunier, MD i, Vincent Barlogis, MD, PhD j, k, Stéphane Blanche, MD i, David Boutboul, MD, PhD l, Martin Castelle, MD i, Thibault Comont, MD m, Jean-Sébastien Diana, MD i, Claire Fieschi, MD, PhD k, l, Lionel Galicier, MD l, Olivier Hermine, MD, PhD a, k, n, Alain Lefèvre-Utile, MD i, o, Marion Malphettes, MD l, Etienne Merlin, MD, PhD p, Eric Oksenhendler, MD, PhD k, l, q, Marlène Pasquet, MD, PhD r, Felipe Suarez, MD, PhD a, k, o, Isabelle André, PhD e, s, Vivien Béziat, PhD d, e, Geneviève De Saint Basile, MD, PhD a, b, t, Jean-Pierre De Villartay, PhD e, u, Sven Kracker, PhD e, s, Chantal Lagresle-Peyrou, PhD e, s, Sylvain Latour, PhD c, e, Frédéric Rieux-Laucat, PhD e, v, Nizar Mahlaoui, MD, PhD i, k, Christine Bole, PhD e, Patrick Nitschke, PhD e, f, Elisabeth Hulier-Ammar, PhD e, Alain Fischer, MD, PhD a, i, k, w, Despina Moshous, MD, PhD a, i, u, Bénédicte Neven, MD, PhD a, i, v, Alexandre Alcais, MD, PhD d, e, Guillaume Vogt, PhD x, y, z, Jacinta Bustamante, MD, PhD a, b, d, Capucine Picard, MD, PhD a, b, c, i, k
a University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France
b Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children–Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
c Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France
d Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-UMR 1163, Paris, France
e INSERM-UMR 1163, Imagine Institute, Paris, France
f Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, Paris, France
g Centre National de la Recherche Scientifique, Unité Mixte de Service 3633, INSERM, University of Paris, Paris, France
h Department of Pediatric Hematology, Jeanne de Flandre Hospital, Lille, France
i Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France
j Department of Pediatric Hematology, La Timone Hospital, Marseille, France
k French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France
l Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France
m Department of Internal Medicine, Institut Universitaire du Cancer–Oncopôle, Toulouse, France
n Department of Adult Hematology, Necker Hospital for Sick Children, AP-HP, Paris, France
o Department of General Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France
p Department of Pediatrics, Estaing Hospital, Clermont-Ferrand, France
q Paris Diderot University, Paris, France
r Pediatric Oncology Immunology Hematology Unit, Children Hospital, Toulouse, France
s Laboratory of Human Lymphohematopoiesis, INSERM-UMR 1163, Paris, France
t Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM-UMR 1163, Paris, France
u Laboratory of Genome Dynamics in The Immune System, INSERM-UMR 1163, Paris, France
v Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM-UMR 1163, Paris, France
w Collège de France, Paris, France
x Neglected Human Genetics Laboratory, INSERM, University of Paris, Paris, France
y Institut Sapiens, Paris, France
z Neglected Human Genetics Laboratory, Centre National de Recherche en Génomique Humaine–Le Commissariat à L’énergie Atomique et aux Énergies Alternatives, Evry, France
| This work was supported by the Centre de Référence Déficits Immunitaires Héréditaires and European Research Area Network (ERA-Net) for Research Programs on Rare Diseases (E-Rare). |
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| Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest. |
© 2020
American Academy of Allergy, Asthma & Immunology. Pubblicato da Elsevier Masson SAS. Tutti i diritti riservati.
Vol 147 - N° 2
P. 734-737 - Febbraio 2021 Ritorno al numero
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