Upregulation of interferon-γ activation in patients with anti-interferon-γ autoantibodies immunodeficiency syndrome: insights from single-cell analysis.

ABSTRACT:

Background

Anti-interferon-γ autoantibodies (AIGAs) immunodeficiency syndrome is an emerging adult-onset immunodeficiency causing opportunistic infections. However, its comprehensive immune landscape remains elusive. This study presents the first single-cell RNA sequencing (scRNA-seq) analysis of AIGAs immunodeficiency syndrome, aiming to delineate its pathogenic mechanisms.

Methods

We performed scRNA-seq on peripheral blood mononuclear cells (PBMCs) from 8 AIGAs immunodeficiency syndrome patients (4 infective, 4 stable phase) and 3 healthy controls. Findings were validated by flow cytometry in an expanded cohort (15 patients vs. 10 controls).

Results

Single-cell RNA sequencing of PBMCs from patients with AIGAs immunodeficiency syndrome identified a comprehensive immu

SUBMITTER: Liang SQ 

PROVIDER: S-EPMC12909572 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature