Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

ABSTRACT:

Purpose

Heterozygous mutations in CTLA4 lead to an inborn error of immunity characterized by immune dysregulation and immunodeficiency, known as CTLA-4 insufficiency. Cohort studies on CTLA4 mutation carriers showed a reduced penetrance (around 70%) and variable disease expressivity, suggesting the presence of modifying factors. It is well studied that infections can trigger autoimmunity in humans, especially in combination with a genetic predisposition.

Methods

To investigate whether specific infections or the presence of specific persisting pathogens are associated with disease onset or severity in CTLA-4 insufficiency, we have examined the humoral immune response in 13 CTLA4 mutation carriers, seven without clinical manifestation and six with autoimmu

SUBMITTER: Krausz M 

PROVIDER: S-EPMC9667032 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature