IPEX 증후군(FOXP3)
X 연관 열성
FOXP3의 변화로 발생하며, 주로 영아기부터 시작되는 남아의 면역 조절 장애, 다발성 내분비병증 및 장병증입니다.
진단이 달라지는 점
면역억제 치료와 조기 조혈모세포 이식으로 예후가 개선됩니다.
분석 유전자
다른 명칭
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
