Term Name: | immunodeficiency 32B |
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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. |
Ontology: | Human Disease [DOID:0111985] ( DOID:0111985 ) |