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GENATLAS PHENOTYPE
last update : 05-09-2017
Symbol IMD27A
Location 6q23.3
Name Immunodeficiency 27A
Other name(s)
  • susceptibility to BCG, tuberculosis and mycobacterial infections
  • Mendelian susceptibility to mycobacterial infections
  • interferon gamma, receptor 1 deficiency
    • Corresponding gene IFNGR1
    Other symbol(s) AMYF, MSMD, IFNGR1D
    Main clinical features
  • severe form, associated with a defect in mature granulomas in patients with complete deficiency, familial or sporadic, multifocal osteomyelitis
  • complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections
  • clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B)
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including DA form IMD27B
    Function/system disorder defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein lacking the extracellular domain and having a dominant-negative effect on on IFNG signal transduction
    Remark(s)