Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry Nizar Mahlaoui, MD, PhD, Capucine Picard, MD, PhD, Perrine.

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Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry Nizar Mahlaoui, MD, PhD, Capucine Picard, MD, PhD, Perrine Bach, BS, Laurence Costes, BS, Virginie Courteille, BS, Anja Ranohavimparany, PhD, Alexandre Alcaïs, MD, PhD, Jean-Philippe Jais, MD, PhD, Alain Fischer, MD, PhD Christine Bellanné- Chantelot, Jacinta Bustamante, Sylvie Chollet-Martin, Christian Drouet, Véronique Fremeaux-Bacchi, Caroline Kannengiesser, Virginie Girardin, Nathalie Lambert, Valérie Proulle, Jérémie Rosain, Marie José Stasia, Dominique Stoppa Lyonnet, Ioannis Theodorou, Wadih Abou-Chahla, Daniel Adoue, Nathalie Aladjidi, Zahir Amoura, Corinne Armari-Alla, Brigitte Bader-Meunier, Vincent Barlogis, Sophie Bayart, Yves Bertrand, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean-Paul Brion, Jacques Brouard, Liana Carausu, Emilie Catherinot, Nathalie Cheikh, Sarah Cohen-Beaussant, Louis-Jean Couderc, Pierre Cougoul, Gérard Couillault, Geneviève de Saint Basile, Catherine Devoldere, Anne Deville, Eric Dore, Fabienne Dulieu, Isabelle Durieu, Natacha Entz Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Bernard Grosbois, Aurélien Guffroy, Corinne Guitton, Gaelle Guillerm, Eric Hachulla, Mohamed Hamidou, Sophie Haro, Yves Hatchuel, Olivier Hermine, Cyrille Hoarau, Bruno Hoen, Arnaud Hot, Sébastien Humbert, Arnaud Jaccard, Serge Jacquot, Rolland Jaussaud, Pierre-Yves Jeandel, Eric Jeziorski, Kamila Kebaili, Anne-Sophie Korganow, Olivier Lambotte, Fanny Lanternier, Claire Larroche, Alain Le Quellec, Emmanuelle Le Moigne, Vincent Le Moing, David Launay, Yvon Lebranchu, Marc Lecuit, Guillaume Lefevre, Richard Lemal, Valérie Li-Thiao-Te, Olivier Lortholary, Marion Malphettes, Aude Marie-Cardine, Nicolas Martin Silva, Agathe Masseau, Christian Massot, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Munzer, Bénédicte Neven, Raphaëlle Nove-Josserand, Dalila Nouar, Eric Oksenhendler, Marie Ouachée-Chardin, Anne Pagnier, Marlène Pasquet, Isabelle Pellier, Yves Perel, Antoinette Perlat, Christophe Piguet, Dominique Plantaz, Pierre Quartier, Frédéric Rieux-Laucat, Pascal Roblot, Pierre-Simon Rohrlich, Bruno Royer, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, Jean-Pierre Vannier, Jean-François Viallard Nizar Mahlaoui, MD, PhD, Capucine Picard, MD, PhD, Perrine Bach, BS, Laurence Costes, BS, Virginie Courteille, BS, Anja Ranohavimparany, PhD, Alexandre Alcaïs, MD, PhD, Jean-Philippe Jais, MD, PhD, Alain Fischer, MD, PhD Christine Bellanné-Chantelot, Jacinta Bustamante, Sylvie Chollet-Martin, Christian Drouet, Véronique Fremeaux-Bacchi, Caroline Kannengiesser, Virginie Girardin, Nathalie Lambert, Valérie Proulle, Jérémie Rosain, Marie José Stasia, Dominique Stoppa Lyonnet, Ioannis Theodorou, Wadih Abou-Chahla, Daniel Adoue, Nathalie Aladjidi, Zahir Amoura, Corinne Armari-Alla, Brigitte Bader-Meunier, Vincent Barlogis, Sophie Bayart, Yves Bertrand, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean-Paul Brion, Jacques Brouard, Liana Carausu, Emilie Catherinot, Nathalie Cheikh, Sarah Cohen-Beaussant, Louis-Jean Couderc, Pierre Cougoul, Gérard Couillault, Geneviève de Saint Basile, Catherine Devoldere, Anne Deville, Eric Dore, Fabienne Dulieu, Isabelle Durieu, Natacha Entz Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Bernard Grosbois, Aurélien Guffroy, Corinne Guitton, Gaelle Guillerm, Eric Hachulla, Mohamed Hamidou, Sophie Haro, Yves Hatchuel, Olivier Hermine, Cyrille Hoarau, Bruno Hoen, Arnaud Hot, Sébastien Humbert, Arnaud Jaccard, Serge Jacquot, Rolland Jaussaud, Pierre-Yves Jeandel, Eric Jeziorski, Kamila Kebaili, Anne-Sophie Korganow, Olivier Lambotte, Fanny Lanternier, Claire Larroche, Alain Le Quellec, Emmanuelle Le Moigne, Vincent Le Moing, David Launay, Yvon Lebranchu, Marc Lecuit, Guillaume Lefevre, Richard Lemal, Valérie Li-Thiao-Te, Olivier Lortholary, Marion Malphettes, Aude Marie-Cardine, Nicolas Martin Silva, Agathe Masseau, Christian Massot, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Munzer, Bénédicte Neven, Raphaëlle Nove-Josserand, Dalila Nouar, Eric Oksenhendler, Marie Ouachée-Chardin, Anne Pagnier, Marlène Pasquet, Isabelle Pellier, Yves Perel, Antoinette Perlat, Christophe Piguet, Dominique Plantaz, Pierre Quartier, Frédéric Rieux-Laucat, Pascal Roblot, Pierre-Simon Rohrlich, Bruno Royer, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, Jean-Pierre Vannier, Jean-François Viallard Journal of Allergy and Clinical Immunology Volume 143, Issue 4, Pages 1646-1649.e10 (April 2019) DOI: 10.1016/j.jaci.2018.12.994 Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Time interval between clinical and genetic diagnoses. A, By decade of birth. The values at the top correspond to the number of patients per group (n = 1558 patients). B, By decade of birth and PID group. The values at the top correspond to the number of patients per group (n = 1558 patients). In the box plot the bold line represents the median, and the lower and upper limits of the box represent the first and third quartiles, respectively. The values at the top of each box plot correspond to the number of patients in each group. Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Cumulative distribution of years of clinical diagnosis, genetic testing, and registration (n = 6252, 2859, and 6602 patients, respectively). Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 Genetic testing and diagnosis by PID group, age, and sex. Abbreviations are the same as in Table II. Dark gray bars correspond to the proportion of patients with a genetic diagnosis. Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E3 Genetic testing and diagnosis as a function of year of birth (n = 6602 patients). Dark gray bars correspond to the proportion of patients with a genetic diagnosis. Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E4 Genetic testing and diagnosis as a function of the year of clinical diagnosis (n = 6252 patients). Dark gray bars correspond to the proportion of patients with a genetic diagnosis. Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E5 Genetic testing and diagnosis as a function of the year of clinical diagnosis and the PID group (n = 6252 patients). The abbreviations are the same as in Fig E2. Dark gray bars correspond to the proportion of patients with a genetic diagnosis. Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E6 Prevalence of patients with a PID in mainland France. A, All living patients with a PID and a documented place of residence (n = 5593 patients; overall prevalence, 8.64 per 105 inhabitants; P < .0001, Moran I test and Geary C test). B, All living patients with a PID with a genetic diagnosis and a documented place of residence (n = 2153 patients; prevalence, 3.33 per 105 inhabitants; P < .0001, Moran I test and Geary C test). Journal of Allergy and Clinical Immunology 2019 143, 1646-1649.e10DOI: (10.1016/j.jaci.2018.12.994) Copyright © 2019 American Academy of Allergy, Asthma & Immunology Terms and Conditions