Merck Manual

Please confirm that you are a health care professional

Loading

IPEX Syndrome

By

Jennifer M. Barker

, MD, Children's Hospital Colorado, Division of Pediatric Endocrinology

Last full review/revision Jun 2019| Content last modified Jun 2019
Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

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.

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 syndrome 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.

Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read

Also of Interest

Videos

View All
Overview of Metabolic Acidosis
Video
Overview of Metabolic Acidosis
3D Models
View All
Female Endocrine System
3D Model
Female Endocrine System

SOCIAL MEDIA

TOP