6533b82bfe1ef96bd128d598

RESEARCH PRODUCT

Genetics of Polyglandular Failure

subject

description

The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations in the AIRE gene impair self-tolerance and result in defect proteins causing autoimmune destruction of target organs. Genetic testing identifies patients with APS1. For APS2/3 disease susceptibility genes are the human leucocyte antigen on chromosome 6, the cytotoxic T lymphocyte antigen (chromosome 2), the protein tyrosine phosphatase nonreceptor type 22 (chromosome 1), the forkhead box P3 (X chromosome), and the interleukin-2 receptor alpha gene region (chromosome 10). These genes are involved in the immune regulation and T-cell activation foremost within the immunological synapse. Further candidate genes with joint risk for autoimmune thyroid disease and type 1 diabetes (APS3) are the v-erb-b2 erythroblast leukemia viral oncogene homolog 3 gene on chromosome 12 and the C-type lectin domain family 16 member A on chromosome 16. The latter one might be involved in pathogen recognition.