OBO ID: DOID:0111956
Term Name: immunodeficiency 27B Search Ontology:
Synonyms:
  • autosomal dominant IFNGR1 deficiency
  • autosomal dominant immunodeficiency 27B, mycobacteriosis
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
  • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
  • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
  • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
  • IMD27B
Definition: A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3. (2)
References:
Ontology: Human Disease   (DOID:0111956)
OTHER immunodeficiency 27B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFNGR1 Immunodeficiency 27B, mycobacteriosis, AD 615978
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None