Not Found

Find information on medical topics, symptoms, drugs, procedures, news and more, written for the health care professional.

IPEX Syndrome

By Jennifer M. Barker, MD, Associate Professor of Pediatrics, Division of Pediatric Endocrinology, Children's Hospital Colorado, Division of Pediatric Endocrinology

Click here for
Patient Education

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) is an X-linked recessive syndrome involving aggressive autoimmunity.

This rare disorder results from mutation of the transcriptional activator, FoxP3, which causes regulatory T-cell dysfunction and a subsequent autoimmune disorder.

IPEX syndrome manifests as severe enlargement of the secondary lymphoid organs, type 1 diabetes mellitus, eczema, food allergies, and infections. Secondary enteropathy leads to persistent diarrhea.

Diagnosis of IPEX syndrome is suggested by clinical features and confirmed by genetic analysis.


  • Hematopoietic stem cell transplantation

Untreated, IPEX syndrome is usually fatal in the first year of life. Hematopoietic stem cell transplantation has been shown to be effective. Long-term follow-up of patients with IPEX treated with hematopoietic stem cell transplantation continues (1).

Treatment reference

  • Nademi Z, Slatter M, Gambineri E, et al: Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Bone Marrow Transplant 49(2):310–312, 2014.