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GENATLAS PHENOTYPE
last update : 20-12-2014
Symbol CANDF7
Location 2q32.2
Name candidiasis, familial, 7
Other name(s)
  • Immunodeficiency-31C
  • Corresponding gene STAT1
    Other symbol(s) IMD31C
    Main clinical features
  • immunologic dysregulation with chronic mucocutaneous candidiasis
  • recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Remark(s)