The French national registry of primary immunodeficiency diseases
Section snippets
Background
Rare diseases such as primary immune deficiencies (PIDs) are increasingly being acknowledged as important medical and social issues by the health authorities and the medical community. Even though each rare disease affects a limited number of individuals (less than 200,000 individuals in the United States or, according to the European definition, fewer than 1 in 2,000 people), millions are concerned by the more than 6,000 different low-prevalence diseases identified to date [1]. In view of the
The CEREDIH network
The CEREDIH network was initiated in November 2005 and now comprises 58 medical departments with experience in the care of both children and adults with PID in 19 regional centers (Supplementary Table 1). All the various departments (mostly specializing in immunology, hematology, infectious diseases and/or internal medicine) are located in university medical centers. With the goal of registering all pediatric and adult PID patients in France, all immunologists, internal medicine specialists,
Overall description of the French national registry of patients with PID
Between November 2005 and April 2009, 3,083 patients were registered in the database. The overall PID prevalence was estimated at 4.4 per 100,000 inhabitants (2,682 patients alive for 61,000,000 inhabitants in continental France). Predominantly B-cell and T-cell deficiencies were the most common PIDs, with prevalences of 43% and 38%, respectively (Table 1). An overview of the main PID diagnoses is given in Table 2, whereas Supplementary Table 2 provides a more detailed frequency distribution.
Discussion
Here, we report on the distribution of PIDs in France for the first time. To the best of our knowledge, the French National Reference Centre for PIDs (CEREDIH) holds the largest national registry ever constituted. The CEREDIH registry is based on systematic, comprehensive in-situ data collection from university medical centers in continental France. In each center, all physicians known to have expertise in the care of children and adult patients with PID contribute to the registry within the
Acknowledgments
This study was funded by the French Ministry of Health and received additional support from the French association of patients with PID (IRIS). The CEREDIH received educational grants from LFB, Baxter Biosciences, CSL Behring, Octapharma and Pfizer. Financial disclosures: none reported. JB and NM had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
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Members of the French PID study group are listed below: Julien Beauté, Nizar Mahlaoui, Yasmine Dudoit, Romain Micol, Loïc Le Mignot, Sophie Hilpert, Nathalie de Vergnes, Gaelle Obenga, Lilia Ben Slama, Benjamin Gathmann, Gerhard Kindle, Julien Boileau, Nathalie Heinz, Anne-Sophie Korganow, Patrick Lutz, Jean-Louis Pasquali, Nathalie Aladjidi, Marguerite Micheau, Yves Perel, Jean-François Viallard, Bernard Bonnotte, Claire Briandet, Gérard Couillault, Faézeh Legrand, Pierre-Simon Rohrlich, Olivier Decaux, Virginie Gandemer, Bernard Grosbois, Edouard Le Gall, Philippe Lemoine, Laurent Aaron, Cyrille Hoarau, Yvon Lebranchu, Rolland Jaussaud, Martine Munzer, Aude Marie-Cardine, Jean-Pierre Vannier, Serge Jacquot, François Tron, Claire Fieschi, Lionel Galicier, Marion Malphettes, Guy Leverger, Emilie Catherinot, Hélène Coignard-Biehler, Fanny Lanternier, Olivia Chandesris, Stéphane Blanche, Jean-Laurent Casanova, Marianne Debré, Pierre Frange, Despina Moshous, Richard Mouy, Bénédicte Neven, Luc Mouthon, Zahir Amoura, Alexis Mathian, Pierre Galanaud, Olivier Lambotte, Yves Levy, Frédéric Bernard, Eric Jeziorski, Alain Le Quellec, Vincent Le Moing, Arnaud Jaccard, Christophe Piguet, Pierre Bordigoni, Alexandra Salmon, Daniel Adoue, Philippe Arlet, Hervé Rubie, Pierre Teira, Eric Hachulla, Françoise Mazingue, Vincent Barlogis, Gérard Michel, Nicolas Schleinitz, Anne Deville, Fabienne Dulieu, Fabrice Monpoux, Martine Gardembas, Isabelle Pellier, Boris Bienvenu, Patrick Boutard, Mohamed Hamidou, Agathe Masseau, Caroline Thomas, Kaïss Lassoued, Jean-Pierre Marolleau, Brigitte Pautard, Bruno Royer, Frédéric Millot, François Demeocq, Christian Massot, Françoise Sarrot-Reynauld, Dominique Plantaz, Yves Bertrand, Kamila Kebaili, Grégoire Cozon, Isabelle Durieu, Raphaëlle Nove-Josserand, Michel Pavic, Jean-Louis Stephan, Jean Donadieu, Paul Landais, Marc Lecuit, Capucine Picard, Felipe Suarez, Olivier Lortholary, Eric Oksenhendler, Olivier Hermine, Alain Fischer.