FOXP3

More than 60 mutations in the FOXP3 gene have been found to cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare condition is characterized by the development of multiple autoimmune disorders in affected individuals, typically affecting the intestines, skin, and hormone-producing (endocrine) glands. Most of the FOXP3 gene mutations involved in IPEX syndrome change a protein building block (amino acid) in the region of the FOXP3 protein that binds to DNA or lead to the production of an abnormally short, nonfunctional protein. Mutations in the FOXP3 gene impair the normal function of regulatory T cells. Without the function of these cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders that develop in people with IPEX syndrome.

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