IPEX is a severe congenital systemic autoimmune disease. The disease develops during the first days of life and mainly affects boys.

The disease manifests itself in the successive development of intestinal disorders, autoimmune disease and skin involvement. Prevalence of the disease is unknown. Fewer than 150 cases have been reported so far.

The only treatment for IPEX is transplantation of haematopoietic stem cells. Other drug treatments or the initiation of parenteral nutrition depend on the illnesses secondary to IPEX and their severity.

Diagnosis is based on clinical examination, family history and a blood test. A genetic test will confirm the diagnosis.

IPEX is caused by mutations in the FOXP3 gene found on the X chromosome. There is 50% transmission in the case of a male foetus. 50% of girls will carry the recessive gene.