Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
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Mahlaoui, Nizar | Picard, Capucine | Bach, Perrine | Costes, Laurence | Courteille, Virginie | Ranohavimparany, Anja | Alcaïs, Alexandre | Jais, Jean-Philippe | Fischer, Alain | Bellanné-Chantelot, Christine | Bustamante, Jacinta | Chollet-Martin, Sylvie | Drouet, Christian | Frémeaux-Bacchi, Véronique | Kannengiesser, Caroline | Girardin, Virginie | Lambert, Nathalie | Proulle, Valérie | Rosain, Jeremie | Stasia, Marie José | Lyonnet, Dominique Stoppa | Theodorou, Ioannis | Abou-Chahla, Wadih | Adoue, Daniel | Aladjidi, Nathalie | Amoura, Zahir | Armari-Alla, Corinne | Bader-Meunier, Brigitte | Barlogis, Vincent | Bayart, Sophie | Bertrand, Yves | Blanche, Stéphane | Bodet, Damien | Bonnotte, Bernard | Borie, Raphael | Boutard, Patrick | Briandet, Claire | Brion, Jean-Paul | Brouard, Jacques | Carausu, Liana | Catherinot, Emilie | Cheikh, Nathalie | Cohen-Beaussant, Sarah | Couderc, Louis-Jean | Cougoul, Pierre | Couillault, Gerard | de Saint Basile, Geneviève | Devoldere, Catherine | Deville, Anne | Doré, Eric | Dulieu, Fabienne | Durieu, Isabelle | Werle, Natacha Entz | Fieschi, Claire | Fouyssac, Fanny | Frange, Pierre | Gajdos, Vincent | Galicier, Lionel | Gandemer, Virginie | Gardembas, Martine | Gaud, Catherine | Grosbois, Bernard | Guffroy, Aurélien | Guitton, Corinne | Guillerm, Gaelle | Hachulla, Eric | Hamidou, Mohamed | Haro, Sophie | Hatchuel, Yves | Hermine, Olivier | Hoarau, Cyrille | Hoen, Bruno | Hot, Arnaud | Humbert, Sébastien | Jaccard, Arnaud | Jacquot, Serge | Jaussaud, Rolland | Jeandel, Yves | Jeziorski, Eric | Kebaili, Kamila | Korganow, Sophie | Lambotte, Olivier | Lanternier, Fanny | Larroche, Claire | Le Quellec, Alain | Le Moigne, Emmanuelle | Le Moing, Vincent | Launay, David | Lebranchu, Yvon | Lecuit, Marc | Lefèvre, Guillaume | Lemal, Richard | Li-Thiao-Te, Valérie | Lortholary, Olivier | Malphettes, Marion | Marie-Cardine, Aude | Silva, Nicolas Martin | Masseau, Agathe | Massot, Christian | Mazingue, Françoise | Merlin, Etienne | Michel, Gérard | Millot, Frédéric | Monlibert, Béatrice | Monpoux, Fabrice | Moshous, Despina | Mouthon, Luc | Munzer, Martine | Neven, Bénédicte | Nove-Josserand, Raphaël | Nouar, Dalila | Oksenhendler, Eric | Ouachée-Chardin, Marie | Pagnier, Anne | Pasquet, Marlène | Pellier, Isabelle | Perel, Yves | Perlat, Antoinette | Piguet, Christophe | Plantaz, Dominique | Quartier, Pierre | Rieux-Laucat, Frédéric | Roblot, Pascal | Rohrlich, Pierre | Royer, Bruno | Salle, Valéry | Sarrot-Reynauld, Françoise | Servettaz, Amélie | Stephan, Jean-Louis | Schleinitz, Nicolas | Suarez, Felipe | Swiader, Laure | Taque, Sophie | Thomas, Caroline | Tournilhac, Olivier | Thumerelle, Caroline | Vannier, Pierre | Viallard, Jean-François
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CCSD ; Elsevier -
International audience.
To the Editor:Since the mid-1980s, continuous progress in genetics and genomics has accelerated the rapid identification of causative genetic variants leading to primary immunodeficiencies (PIDs; >300 genes),1 with the noticeable exception of B-cell disorders, such as common variable immunodeficiency (CVID). The identification of these mutations not only validates a clinical diagnosis but also is useful in several other respects (more accurate prognosis on phenotype/genotype correlation, targeted therapy, and genetic counseling). [...]
