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IPEX Syndrome

By

Jennifer M. Barker

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

Reviewed/Revised Apr 2023
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IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) is an X-linked recessive syndrome involving aggressive autoimmunity.

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 (2 General references 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... read more ).

General references

  • 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

  • 2. Barzaghi F, Passerini L: IPEX syndrome: Improved knowledge of immune pathogenesis empowers diagnosis. Front Pediatr 9:612760, 2021. Published 2021 Feb 22. doi:10.3389/fped.2021.612760

Treatment of IPEX Syndrome

  • Hematopoietic stem cell transplantation

Treatment references

  • 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

  • 2. Ben-Skowronek I: IPEX syndrome: Genetics and treatment options. Genes (Basel) 12(3):323, 2021. Published 2021 Feb 24. doi:10.3390/genes12030323

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