Immunodysregulation, polyendocrinopathy and enteropathy X-linked

What is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome?

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. 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. 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.

Last updated on 05-01-20

How is immunodysregulation polyendocrinopathy enteropathy x-linked syndrome diagnosed in a female?

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.

Last updated on 05-01-20

How rare is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome?

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

Last updated on 05-01-20

Name: Juvenile Diabetes Research Foundation International JDRF 26 Broadway, 14th floor
New York, NY, 10004, United States
Toll Free: 1–800–533–CURE (2873) Fax : +1-212–785–9595 Email: Url:
Name: International Patient Organization for Primary Immunodeficiencies IPOPI Rock Bottom, Trerieve Downderry
PL11 3LY
United Kingdom
Phone: 44-01503-250-668/961 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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