Sindromul IPEX (FOXP3)
Recesivă legată de cromozomul X
Disregularea imunitară, poliendocrinopatie și enteropatie la băieți, cauzate de modificări ale genei FOXP3, care debutează adesea în copilărie timpurie.
Ce schimbă un diagnostic
Imunosupresia și transplantul precoce de celule stem hematopoietice îmbunătățesc evoluția.
Gene analizate
Denumită și
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
