Search Ontology:
Human Disease

immunodeficiency 27B

Term ID
DOID:0111956
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 and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (2)
References
Ontology
Human Disease   ( DOID:0111956 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models