Autoimmune Polyendocrine Syndromes in the Pediatric Age.
Roberto PaparellaMichela MenghiGinevra MicangeliLucia LeonardiGiovanni ProfetaFrancesca TaraniCarla PetrellaGiampiero FerragutiMarco FioreLuigi TaraniPublished in: Children (Basel, Switzerland) (2023)
Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions.