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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10-09-2017
Symbol IMD45
Location 21q22.11
Name Immunodeficiency 45
Corresponding gene IFNAR2
Main clinical features
  • patient fibroblasts were unable to control the replication of certain viruses and were unable to develop an antiviral state in response to alpha-interferon (IFNA1) or beta-interferon (IFNB1)
  • Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Remark(s)