Endocrine Abstracts

Autoimmune polyendocrine syndrome type 1 (APS1) is an autosomic recessive disease due to AIRE gene mutations, inducing central immune tolerance breakdown. It was poorly known in France.Objectives: To describe clinical and immunological phenotypes, to determine main genotypes in West Northern France (9 millions inhabitants), to identify factors that could influence phenotypes, and to analyse immunosuppressive therapies indications in APS1.<p cl...