Search Ontology:
Human Disease

immunodeficiency 28

Term ID
DOID:0111995
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 the IFNGR2 gene on chromosome 21q22.11. (2)
References
Ontology
Human Disease   ( DOID:0111995 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.