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IPEX Syndrome

By

Jennifer M. Barker

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

Last full review/revision Apr 2021| Content last modified Apr 2021
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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 gene, FOXP3, which causes regulatory T-cell dysfunction and a subsequent autoimmune disorder (1).

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 and failure to thrive.

Diagnosis of IPEX syndrome is suggested by clinical features and confirmed by genetic analysis. Genetic counseling and targeted genetic testing for siblings and offspring should be considered.

General reference

  • 1. Chen CB, Tahboub F, Plesec T, et al: A review of autoimmune enteropathy and its associated syndromes. Dig Dis Sci 65(11): 3079–3090, 2020. doi: 10.1007/s10620-020-06540-8

Treatment of IPEX Syndrome

  • 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 beneficial with some resolution of autoimmune disease and decreased development of additional autoimmune manifestations. Long-term follow-up of patients with IPEX syndrome treated with hematopoietic stem cell transplantation continues (1).

Treatment reference

  • Barzaghi F, Amaya Hernandez LC, Neven B, et al: Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol 141(3):1036–1049.e5, 2018. doi: 10.1016/j.jaci.2017.10.041

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