immunodeficiency 32A (DOID:0111986)
Alliance: disease page
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
Alt IDs: OMIM:614893, ORDO:319600, UMLS_CUI:C3808589
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.