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.

BMC Medical Genetics
|August 18, 2019
PubMed
Summary

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.

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