Search Ontology:
Human Disease

immunodeficiency 28

Term ID
DOID:0111995
Synonyms
  • IFNGR2 deficiency
  • IMD28
  • immunodeficiency 28, mycobacteriosis
  • Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
  • MSMD due to complete IFNgammaR2 deficiency
  • MSMD due to complete interferon gamma receptor 2 deficiency
Definition
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (2)
References
Ontology
Human Disease   ( DOID:0111995 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models