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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol IPEX
Location Xp11.23
Name immunodysregulation, polyendocrinopathy, enteropathy
Other name(s)
  • X-linked autoimmunity-allergic dysregulation syndrome . IDDM-secretory diarrhea syndrome . autoimmunity-immunodeficiency syndrome . enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy . diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
  • Corresponding gene FOXP3
    Other symbol(s) XLAAD, DMSD, XPID
    Main clinical features
  • autoimmune enteropathy with diarrhea, atopic dermatitis, immune deficiency and fatal infections
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    digestive tract/gastrointestinal
    endocrinology
    Type disease
    Gene product
    Name forkhead box P3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown in FH domain
    unknown     detected in 50 percent of cases