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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-09-2017
Symbol IMD50
Location Xq12
Name Immunodeficiency 50
Corresponding gene MSN
Main clinical features
  • primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood with profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease