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

CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.PMID:38605470 | DOI:10.1210/clinem/dgae211

Source: The Journal of Clinical Endocrinology and Metabolism - April 12, 2024 Category: Endocrinology Authors: 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 D Source Type: research