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This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

This case report describes an 87-year-old woman diagnosed with type 3 autoimmune polyendocrine syndrome, highlighting the importance of recognizing and managing coexisting autoimmune conditions.

This study describes the positive effects of the JAK inhibitor ruxolitinib in treating autoimmune manifestations in three patients with autoimmune polyendocrine syndrome type-1 over a period of at least 30 months, with excellent tolerance and no adverse events observed.

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.

In this case report, a girl with autoimmune polyglandular syndrome type 1 experienced stabilized disease and reversal of alopecia universalis after treatment with glucocorticoids and methotrexate.