Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, Nicole Fabien, Isabelle Raymond-Top, Catherine Cardot-Bauters, Jean-Claude Carel, Maryse Cartigny, Olivier Chabre, Philippe Chanson, Brigitte Delemer, Christine Do Cao, Laurence Guignat, Jean Emmanuel Kahn, Veronique Kerlan, Herve Lefebvre, Agnès Linglart, Roberto Mallone, Rachel Reynaud, Boualem Sendid, Pierre-François Souchon, Philippe Touraine, Jean-Louis Wémeau, Marie-Christine Vantyghem
BACKGROUND: APECED syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad "hypoparathyroidism-adrenal failure-chronic mucocutaneous candidiasis (CMC)" and non-endocrine manifestations. The aim of this study was to determine the molecular profile of the AIRE gene, the prevalence of rare manifestations and to characterize immunological disturbances in a French cohort. PATIENTS AND METHODS: A national, multicenter prospective observational study to collect genetic, clinical, biological and immunological data (NCT03751683)...
April 12, 2024: Journal of Clinical Endocrinology and Metabolism