Immune cell subsets in autoimmune polyendocrine syndrome type I.

ABSTRACT: Autoimmune Polyendocrine Syndrome Type 1 (APS-I) results from mutations in the Autoimmune Regulator (AIRE) gene and serves as a valuable model to understand autoimmunity and immune deficiency. Various studies have produced differing results on how AIRE dysfunction affects the balance of immune cell subsets in blood in humans. We conducted high-resolution whole blood immune cell subset analysis using a 36-panel mass cytometry assay in Norwegian APS-I patients (N = 18) and compared with age and sex-matched healthy subjects (N = 19). Additionally, we provide a comprehensive summary of findings from 28 other studies examining blood immune subset distributions in APS-I patients. Norwegian APS-I patients had significantly reduced numbers of B cells, which was driven by lower levels of the naïve

SUBMITTER: Islam S 

PROVIDER: S-EPMC12322070 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature