The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.

ABSTRACT:

Introduction

Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in CTLA4 is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.

Methods

In this exploratory study, we investi

SUBMITTER: Posadas-Cantera S 

PROVIDER: S-EPMC11744039 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature