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.
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).
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