This website provides information on patients with mutations in the FOXP3 gene, including clinical data, molecular data, management and research options.

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome caused by mutations in the FOXP3 gene is a multisystem disorder characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, endocrinopathy (most commonly insulin-dependent diabetes mellitus), and eczematous dermatitis. Most children have other autoimmune phenomena including cytopenias, autoimmune hepatitis, or nephropathy; lymphadenopathy, splenomegaly, alopecia, arthritis, and lung disease related to immune dysregulation have all been observed. Fetal presentation of IPEX includes hydrops, echogenic bowel, skin desquamation, IUGR, and fetal akinesia.

Not all individuals with a mutation in the FOXP3 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FOXP3 gene.

Raymond J Louie, PhD, Greenwood Genetic Center, Greenwood, South Carolina, rlouie@ggc.org

Queenie K-G Tan, MD, PhD, Duke University Medical Center, Durham, North Carolina, khoon.tan@duke.edu