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Disease Ontology Browser
immunodeficiency 32B (DOID:0111985)
Alliance: disease page
Synonyms: autosomal recessive IRF8 deficiency; IMD32B; immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
Alt IDs: OMIM:226990, UMLS_CUI:C4016741
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory