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 (2).
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
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, 2).
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
