OBO ID: DOID:0111985
Term Name: immunodeficiency 32B Search Ontology:
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 IRF8 on chromosome 16q24.1. (2)
References:
Ontology: Human Disease   (DOID:0111985)
OTHER immunodeficiency 32B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IRF8 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 226990
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None