Search Ontology:
Human Disease

immunodeficiency 32A

Term ID
DOID:0111986
Synonyms
  • IMD32A
  • immunodeficiency 32A, mycobacteriosis, autosomal dominant
  • Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
  • MSMD due to partial interferon regulatory factor 8 deficiency
  • MSMD due to partial IRF8 deficiency
Definition
A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. https://pubmed.ncbi.nlm.nih.gov/21524210/
References
Ontology
Human Disease   ( DOID:0111986 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models