Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients

The study investigated the genetic basis of autoimmune polyendocrinopathy syndrome type 1 (APS1) in 18 patients from seven Arab families. APS1 is characterized by Addison's disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, and is caused by mutations in the AIRE gene. The researchers identified four novel and one recurrent mutation in the AIRE gene among the patients, which likely led to a loss of AIRE function. Additionally, a high incidence of the non-pathogenic c.834C>G mutation was observed in Arab individuals. The study also noted inflammation of hair follicles in APS1 patients with alopecia universalis, concluding that Arab APS1 patients carry unique and recurrent AIRE gene mutations.