Search Ontology:
Human Disease

immunodeficiency 27A

Term ID
DOID:0111955
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 the IFNGR1 gene on chromosome 6q23.3. (3)
References
Ontology
Human Disease   ( DOID:0111955 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models