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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-09-2017
Symbol IMD44
Location 12q13.3
Name Immunodeficiency 44
Corresponding gene STAT2
Main clinical features
  • primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients; affected individuals appear to have defects in mitochondrial fission and fusion
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease