Journal Pre-proof
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-
generation sequencing
Mathieu Fusaro, PharmD, MSc, Jérémie Rosain, PharmD, MSc, Virginie Grandin,
MSc, Nathalie Lambert, MSc, Sylvain Hanein, PhD, Cécile Fourrage, PhD, Nicholas
Renaud, MSc, Marine Gil, MSc, Samuel Chevalier, AS, Wadih Abou Chahla,
MD, Brigitte Bader-Meunier, MD, Vincent Barlogis, MD, PhD, Stéphane Blanche,
MD, David Boutboul, MD, PhD, Martin Castelle, MD, Thibault Comont, MD, Jean-
Sébastien Diana, MD, Claire Fieschi, MD, PhD, Lionel Galicier, MD, Olivier Hermine,
MD, PhD, Alain Lefevre-Utile, MD, Marion Malphettes, MD, Etienne Merlin, MD, PhD,
Eric Oksenhendler, MD, PhD, Marlène Pasquet, MD, PhD, Felipe Suarez, MD, PhD,
Isabelle André, PhD, Vivien Béziat, PhD, Geneviève De Saint Basile, MD, PhD, Jean-
Pierre De Villartay, PhD, Sven Kracker, PhD, Chantal Lagresle-Peyrou, PhD, Sylvain
Latour, PhD, Frédéric Rieux-Laucat, PhD, Nizar Mahlaoui, MD, PhD, Christine Bole,
PhD, Patrick Nitschke, PhD, Elisabeth Hulier-Ammar, PhD, Alain Fischer, MD, PhD,
Despina Moshous, MD, PhD, Bénédicte Neven, MD, PhD, Alexandre Alcais, MD,
PhD, Guillaume Vogt, PhD, Jacinta Bustamante, MD, PhD, Capucine Picard, MD,
PhD
PII: S0091-6749(20)30816-2
DOI: https://doi.org/10.1016/j.jaci.2020.05.046
Reference: YMAI 14617
To appear in: Journal of Allergy and Clinical Immunology
Received Date: 16 January 2020
Revised Date: 12 May 2020
Accepted Date: 15 May 2020
Please cite this article as: Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud
N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle
M, Comont T, Diana J-S, Fieschi C, Galicier L, Hermine O, Lefevre-Utile A, Malphettes M, Merlin E,
Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay J-P, Kracker
S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E,
Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C, Improving the diagnostic