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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-09-2017
Symbol IMD34
Location Xp21.1
Name Immunodeficiency 34
Corresponding gene CYBB
Main clinical features
  • recurrent mycobacterial disease in males
  • susceptibility to mycobacterial disease manifesting as BCG disease after neonatal vaccination
  • immunohistochemistry showed impaired production of CYBB in patient lymph node macrophages
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease
    Remark(s)