OBO ID: DOID:0111955
Term Name: immunodeficiency 27A Search Ontology:
Synonyms:
  • autosomal recessive IFNGR1 deficiency
  • autosomal recessive immunodeficiency 27A, mycobacteriosis
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
  • autosomal recessive MSMD due to partial IFNgammaR1 deficiency
  • autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
  • IMD27A
Definition: A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3. (3)
References:
Ontology: Human Disease   (DOID:0111955)
OTHER immunodeficiency 27A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFNGR1 Immunodeficiency 27A, mycobacteriosis, AR 209950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None