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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-09-2017
Symbol IMD20
Location 1q23.3
Name Immunodeficiency 20
Corresponding gene FCGR3A
Main clinical features
  • primary immunodeficiency characterized by functional deficiency of NK cells; patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV)
  • IMD20 patient NK cells exhibited deficient spontaneous cell cytotoxicity
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease