OBO ID: DOID:0111995
Term Name: immunodeficiency 28 Search Ontology:
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 IFNGR2 on chromosome 21q22.11. (2)
References:
Ontology: Human Disease   (DOID:0111995)
OTHER immunodeficiency 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFNGR2 Immunodeficiency 28, mycobacteriosis 614889
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None