Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.

ABSTRACT: Autoimmune Addison's disease (AAD) is a classic organ-specific autoimmune disease characterized by an immune-mediated attack on the adrenal cortex. As most autoimmune diseases, AAD is believed to be caused by a combination of genetic and environmental factors, and probably interactions between the two. Persistent viral infections have been suggested to play a triggering role, by invoking inflammation and autoimmune destruction. The inability of clearing infections can be due to aberrations in innate immunity, including mutations in genes involved in the recognition of conserved microbial patterns. In a whole exome sequencing study of anonymized AAD patients, we discovered several rare variants predicted to be damaging in the gene encoding Toll-like receptor 3 (TLR3). TLR3 recognizes double

SUBMITTER: Aslaksen S 

PROVIDER: S-EPMC7388336 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature