Autoimmune Polyglandular Syndrome Type 1: a case report.

Sayed Mahmoud Sajjadi-JaziAkbar SoltaniSamaneh EnayatiArmita Kakavand HamidiMahsa M Amoli

Published in: BMC medical genetics (2019)

To the best of our knowledge, this is the first report of an Iranian Muslim APS-1 patient with combination of these variations. In addition, the effect of c.1095 + 2 T > A mutation on AIRE mRNA expression was reported for the first time. This study expands the diversity of variants that could cause APS-1. More genetic studies are required to determine the exact frequency of these variants and their diagnostic significance.

Keyphrases

copy number
case report
healthcare
multiple sclerosis
genome wide
gene expression
case control