Sindrome IPEX (FOXP3)
Recessiva legata all'X
Disregolazione immunitaria, poliendocrinopatia ed enteropatia nei maschi causate da alterazioni di FOXP3, spesso con esordio nei primi mesi di vita.
Cosa cambia con una diagnosi
L'immunosoppressione e il trapianto precoce di cellule staminali ematopoietiche migliorano gli esiti.
Geni analizzati
Conosciuto anche come
autoimmune enteropathy type 1; autoimmunity-immunodeficiency syndrome X-linked; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; DMSD; enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy; IDDM secretory diarrhea syndrome; IDDM secretory diarrhoea syndrome; immune dysfunction and diarrhea syndrome; immune dysfunction and diarrhoea syndrome; immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome; Immunodysregulation, polyendocrinopathy and enteropathy X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive; IPEX; IPEX syndrome; polyendocrinopathy, immune dysfunction and diarrhea X-linked; polyendocrinopathy, immune dysfunction and diarrhoea X-linked; X linked polyendocrinopathy; X-linked autoimmunity-allergic dysregulation syndrome; XLAAD; XPID
