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This case study reported on a 30-year-old male with autoimmune polyglandular syndrome type 2, highlighting rare co-occurrence with alopecia universalis and emphasizing the importance of recognizing non-endocrine symptoms for early diagnosis and management of autoimmune endocrinopathies.

This report describes a 38-year-old female diagnosed with autoimmune polyendocrine syndrome Type II after presenting with shock.

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.

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