Lessons from prospective longitudinal follow-up of a French APECED cohort. - Université de Lille
Article Dans Une Revue Journal of Clinical Endocrinology and Metabolism Année : 2024

Lessons from prospective longitudinal follow-up of a French APECED cohort.

Roberto Mallone
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Résumé

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 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 nonendocrine 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.
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hal-04633764 , version 1 (03-07-2024)

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Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, et al.. Lessons from prospective longitudinal follow-up of a French APECED cohort.. Journal of Clinical Endocrinology and Metabolism, 2024, J Clin Endocrinol Metab, ⟨10.1210/clinem/dgae211⟩. ⟨hal-04633764⟩
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