Immunodysregulation, polyendocrinopathy and enteropathy X-linked

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome.^[1] There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females.^[2][3] Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.^[1]  

Immunodysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome only affects males. Because the FOXP3 gene is found on the X chromosome and males have only one X chromosome, whereas females have two X chromosomes, if there is mutation in a male's FOXP3 gene, he will have IPEX syndrome. If a male is diagnosed with IPEX syndrome based on clinical symptoms, he may have genetic testing to look for a mutation in the FOXP3 gene. If a mutation is found, his female relatives could then be tested for the same FOXP3 gene mutation. Since females have two FOXP3 genes; if a mutation is found in one of the two FOXP3 genes, she is considered a carrier of IPEX syndrome; she would not be expected to have any symptoms of the disease herself, but she could potentially pass the condition on to a son.^[1] 

Fewer than 150 individuals have ever been diagnosed with immunodysregulation polyendocrinopathy enterology x-linked (IPEX) syndrome, but there may be many unreported cases.^[1]