IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema.
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
