Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS)
Year: 2025
Type: article
Language: en
Topic: Inflammasome and immune disorders
Authors and affiliations:
raw_author_name: Adrien Subervie
raw_affiliation_strings: French Reference Center for Autoinflammatory Diseases and Amyloïdosis, (CEREMAIA), Department of Pediatrics, Versailles Hospital, Versailles, France
raw_author_name: Inès Elhani
raw_affiliation_strings: French Reference Center for Autoinflammatory Diseases and Amyloïdosis, (CEREMAIA), Department of Pediatrics, Versailles Hospital, Versailles, France
raw_author_name: Mathilde Labouret
raw_affiliation_strings: French Reference Center for Autoinflammatory Diseases and Amyloïdosis, (CEREMAIA), Department of Pediatrics, Versailles Hospital, Versailles, France
raw_author_name: Sophie Georgin-Lavialle
raw_affiliation_strings: AP-HP, hôpital Tenon, Sorbonne université, Service de médecine interne, centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Paris, 75020, France
Université Paris-Cité, Paris, France
raw_author_name: Eric Hachulla
raw_affiliation_strings: Department of Internal Medicine and Clinical Immunology, Referral Centre for Rare Systemic Auto-Immune and Auto-Inflammatory Diseases (CeRAINOM), Univ. Lille, Inserm, CHU Lille, U1286 - INFINITE, University of Lille, Lille, F-59037, France
raw_author_name: Alexandre Belot
raw_affiliation_strings: Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, École Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France
raw_author_name: Arnaud Hot
raw_affiliation_strings: Department of Clinical Immunology and Internal Medicine, University of Lyon 1, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France
raw_author_name: Pierre Quartier
raw_affiliation_strings: Pediatric Immuno-Hematology and Rheumatology Unit, RAISE Rare Disease Reference Centre, Hopital Universitaire Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, Paris, France
Université Paris-Cité, Paris, France
raw_author_name: Achille Aouba
raw_affiliation_strings: Caen University-Normandie, Caen, France
Department of Internal Medicine, Caen University Hospital, Caen, France
raw_author_name: Alexandra Desdoits
raw_affiliation_strings: Department of Pediatric Surgery and Pediatric Rheumatology, CHU Caen Normandie, Caen, France
raw_author_name: David Saadoun
raw_affiliation_strings: AP-HP, Centre de Référence des Maladies Auto-Immunes Systémiques Rares, French Reference Center for Autoinflammatory diseases and amyloidosis (CEREMAIA), Paris, F-75013, France
Département de médecine interne et d'immunologie clinique, Paris, France
INSERM, UMR 959, Paris, F-75013, France
Sorbonne Universités, Hôpitql Pitié Salpêtrière, Paris, France
raw_author_name: Marie-Elise Truchetet
raw_affiliation_strings: Bordeaux University Hospital, FHU ACRONIM, Place Amélie-Raba-Léon, Bordeaux, 33076, France
CNRS UMR 5164 Immuno ConcEpT, Bordeaux University, Bât. 1B, 146 Rue Léo Saignat, Bordeaux, 33076, France
raw_author_name: Pascal Pillet
raw_affiliation_strings: Paediatric Department, Bordeaux University Hospital Pellegrin, Bordeaux, France
raw_author_name: Guilaine Boursier
raw_affiliation_strings: Department of Molecular Genetics and Cytogenomics, Rare and Auto Inflammatory Diseases Unit, CHU Montpellier, University of Montpellier, Montpellier, France
raw_author_name: Ygal Benhamou
raw_affiliation_strings: F-CRIN INNOVTE Network, Saint-Etienne, France
UNI Rouen U1096, Service de médecine interne, Normandie université, CHU Charles-Nicolle, Rouen, France
raw_author_name: Martine Grall-Lerosey
raw_affiliation_strings: Department of Pediatrics, CHU Rouen, Rouen, France
raw_author_name: Brigitte Granel
raw_affiliation_strings: Internal Medicine Department, Hôpital Nord, Assistance Publique des Hôpitaux de Marseille (APHM), Aix-Marseille Université (AMU), Marseille, France
raw_author_name: Olivier Fain
raw_affiliation_strings: Department of Internal Medicine, Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Assistance Publique - Hôpitaux de Paris, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, Paris, 75012, France
raw_author_name: Viviane Queyrel
raw_affiliation_strings: Department of Rheumatology, Nice University Hospital, Nice, France
raw_author_name: Alain Lescoat
raw_affiliation_strings: Department of Internal Medicine and Clinical Immunology, Rennes University Hospital, Rennes, France
raw_author_name: Isabelle Melki
raw_affiliation_strings: General Pediatrics-Infectious Diseases and Internal Medicine Department, Trousseau Hospital, AP-HP, Paris, Paris, France
Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université Paris-Cité, Paris, France
Université de Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France
raw_author_name: Veronique Hentgen
raw_affiliation_strings: French Reference Center for Autoinflammatory Diseases and Amyloïdosis, (CEREMAIA), Department of Pediatrics, Versailles Hospital, Versailles, France. vhentgen@ght78sud.fr