IPEX-syndroom (FOXP3)
X-gebonden recessief
Immuundysregulatie, polyendocrinopathie en enteropathie bij jongens, veroorzaakt door veranderingen in FOXP3, vaak al in de zuigelingenleeftijd begonnen.
Wat een diagnose verandert
Immunosuppressie en vroege hematopoëtische stamceltransplantatie verbeteren de uitkomst.
Geanalyseerde genen
Ook bekend als
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
