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IPEX Syndrome

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

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IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) is a 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 is suggested by clinical features and confirmed by genetic analysis.

Treatment

  • 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.