Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked: IPEX syndrome in pediatrics

Immune dysregulation, polyendocrinopathy, X-linked enteropathy (IPEX) is a rare genodermatosis associating dermatitis, enteropathy, type 1 diabetes, thyroiditis, hemolytic anemia and thrombocytopenia. It is an X-linked recessive disease affecting regulatory T lymphocytes. It is diagnosed in early childhood and can be quickly fatal. Malabsorption and associated problems cause affected individuals to die early in their lives. IPEX is caused by mutations in the FOXP3 gene on X chromosome, which encodes a DNA-binding protein required for regulatory T cell development. Treatment choices are restricted and primarily rely on the combination of immunosuppressive medicines such as prednisolone, tacrolimus, or sirolimus, or, when possible, hematopoietic stem cell transplantation. Here we present this pathology in a 3-year old boy who received an allogeneic bone marrow transplant from an HLA-identical family member.