IPEX-sündroom (FOXP3)
X-seotud retsessiivne
Immuunregulatsiooni häire, polüendokrinopaatia ja enteropaatia poistel, mida põhjustavad muutused geenis FOXP3; sageli algab juba imikueas.
Mida diagnoos muudab
Immunosupressiivne ravi ja varajane hematopoeetilise tüvirakkude siirdamine parandavad tulemusi.
Analüüsitud geenid
Tuntud ka nimetustena
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
