autoimmune polyendocrinopathy

Article: Autoimmune polyendocrinopathy associated with ring chromosome 18.

Autoimmune Polyendocrinopathy Syndrome Type I is caused by mutations in the human gene AIRE.

(b) APECED (autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy)

The autoimmune regulator is mutated in the rare autoimmune syndrome Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED).