Autosomal dominant AIRE deficiency. (A) Pedigree of a family with a DN LOF AIRE variant. The arrow denotes the proband (II:1). (B) Schematic of AIRE protein depicting the different functional domains and as well as AIRE variants/amino acid substitutions affecting the SAND, PHD1, and PHD2 domains that have been previously identified in individuals with autosomal dominant APECED. The novel variant found in the family under investigation in our study is indicated by the red arrow (C337F) (see refs 16, 17, 18, 19, 20).