Abstract
Objective: Polymorphisms in immunoregulatory genes may be implicated in the pathogenesis of polyglandular autoimmunity (PGA). This study analyzed whether bi-allelic polymorphisms within the promoter regions of both interleukin-10 (IL-10 position -1082) as well as tumor necrosis factor alpha (TNF-alpha -238 and -308), and in the coding region of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4 +49) affect susceptibility for PGA. Further, we analyzed whether two common mutations in the autoimmune regulator (AIRE) gene (R257X and 13bpdel), which play a role in the juvenile type of PGA, influence adult PGA.
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