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DOID:0111985 - immunodeficiency 32B
Disease Ontology 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.
Synonyms: IMD32B, autosomal recessive IRF8 deficiency, immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive,
Xenbase Genes
:
irf8
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)