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Approach to the patient with APS-1/APECED.

J Clin Endocrinol MetabOct 16, 2026

This article presents five cases of autoimmune polyendocrine syndrome type 1 (APS-1/APECED), a disorder caused by impaired immune tolerance and typically associated with biallelic AIRE variants.

Clinical pearl

Consider APS-1 when compatible non-endocrine features occur, even before hypoparathyroidism or adrenal insufficiency; standard genetic testing may not detect all relevant AIRE variants.

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