Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course.

ABSTRACT:

Context

Autoimmune polyglandular syndrome (APS) is a cluster of endocrine disorders arising from immune dysregulation, often combined with damage to nonendocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2, respectively). In clinical practice, an atypical course of APS is often observed.

Objective

This work aims to find a novel genetic predictor of APS.

Methods

We performed exome sequencing in 2 patients with an atypical clinical APS picture and members of their families. Patient A presented with a manifestation of APS-2 in early childhood and patient B with a late manifestation of the main components of APS-1.

Results

In patient B, we identified inherited compound mutations as a novel combination of the c.769C > T and c.821de

SUBMITTER: Yukina M 

PROVIDER: S-EPMC8252644 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature