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Autoimmune Polyglandular Syndrome Type 1: a case report.
Sayed Mahmoud Sajjadi-Jazi1,2, Akbar Soltani3, Samaneh Enayati3,4
1Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. m_sajadi@tums.ac.ir.
Mutations in the autoimmune regulator (AIRE) gene cause autoimmune polyglandular syndrome type 1 (APS-1). This study identifies novel AIRE gene variants in an Iranian patient, expanding the known genetic landscape of APS-1.
Area of Science:
- Genetics
- Immunology
- Endocrinology
Background:
- Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene.
- Key features of APS-1 include chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure.
- The AIRE gene is located on chromosome 21q22.3.
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