Term Name: | immunodeficiency 32A |
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Synonyms: | IMD32A, immunodeficiency 32A, mycobacteriosis, autosomal dominant, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, MSMD due to partial IRF8 deficiency |
Definition: | A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. |
Ontology: | Human Disease [DOID:0111986] ( DOID:0111986 ) |