Novel findings into AIRE genetics and functioning: clinical implications

• Main Authors: Lucia De Martino (Author), Donatella Capalbo (Author), Nicola Improda (Author), Paola Lorello (Author), Carla Ungaro (Author), Raffaella Di Mase (Author), Emilia Cirillo (Author), Claudio Pignata (Author), Mariacarolina Salerno (Author)
• Format: Book
• Published: Frontiers Media S.A., 2016-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), formerly known as Autoimmune Polyendocrine Syndrome type 1 (APS-1), is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription factor that prom...