What disorders are associated with FOXP3 mutations?
Mutations in the FOXP3 gene can lead to a rare but severe disorder known as IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked) syndrome. Children with IPEX syndrome suffer from a variety of immune-related issues including severe diarrhea, type 1 diabetes, eczema, and increased susceptibility to infections. Early diagnosis and treatment are critical for managing this condition.
