Novel findings into AIRE genetics and functioning: clinical implications

Novel findings into AIRE genetics and functioning: clinical implications

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...

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Bibliographic Details
Main Authors: Lucia De Martino, Donatella Capalbo, Nicola Improda, Paola Lorello, Carla Ungaro, Raffaella Di Mase, Emilia Cirillo, Claudio Pignata, Mariacarolina Salerno
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-08-01
Series:Frontiers in Pediatrics
Subjects:
mutations
diagnosis
AIRE
APECED
autoimmune disease
Online Access:http://journal.frontiersin.org/Journal/10.3389/fped.2016.00086/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fped.2016.00086/full

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