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GENATLAS PHENOTYPE
last update : 11-07-2015
Symbol IFNGR2D
Location 21q22.1
Name IFN gamma-receptor 2 deficiency
Other name(s)
  • atypical mycobacterial infection, familial disseminated
  • Mendelian susceptibility to mycobacterial diseases
  • Immunodeficiency 28
    • Corresponding gene IFNGR2
    Other symbol(s) MSMD, IMD28
    Main clinical features
  • severe atypical mycobacterial infections, disseminated and no recognized form of immunodeficiency
  • disease manifests early in life, with severe, often fatal, infection
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name interferon gamma receptor 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function creating a consensus site for N-glycosylation resulting in a molecule with an additional polysaccharide
    various types   haploinsufficiency in Autosomal dominant IFNGR2 deficiency
    Remark(s)
  • clinical penetrance of Autosomal dominant IFNGR2 deficiency is incomplete, possibly due, at least partly, to the variability of cellular responses to IFNG (PMID: 23161749))