Merck Manual

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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
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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.

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

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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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
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