Lessons from prospective longitudinal follow-up of a French APECED cohort.
Linda HumbertEmmanuelle Proust-LemoineSylvain DubucquoiElisabeth Helen KempPascale Saugier-VeberNicole FabienIsabelle Raymond-TopCatherine Cardot-BautersJean-Claude CarelMaryse CartignyOlivier ChabrePhilippe ChansonBrigitte DelemerChristine Do CaoLaurence GuignatJean Emmanuel KahnVeronique KerlanHerve LefebvreAgnès LinglartRoberto MalloneRachel ReynaudBoualem SendidPierre-François SouchonPhilippe A TouraineJean-Louis WémeauMarie-Christine VantyghemPublished in: The Journal of clinical endocrinology and metabolism (2024)
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.