The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.

ABSTRACT:

Background

Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening, autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS-1, self-reactive T cells escape thymic negative selection, infiltrate organs, and drive autoimmune injury. The effector mechanisms governing T-cell-mediated damage in APS-1 remain poorly understood.

Methods

We examined whether APS-1 could be classified as a disease mediated by interferon-γ. We first assessed patients with APS-1 who were participating in a prospective natural history study and evaluated mRNA and protein expression in blood and tissues. We then examined the pathogenic role of interferon-γ using Aire^-/-Ifng^-/- mice and Aire^-/- mice treated with the

SUBMITTER: Oikonomou V 

PROVIDER: S-EPMC11323209 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature