Search Ontology:
Human Disease

immunodeficiency 32B

Term ID
DOID:0111985
Synonyms
  • autosomal recessive IRF8 deficiency
  • IMD32B
  • immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
Definition
A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (2)
References
Ontology
Human Disease   ( DOID:0111985 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models