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mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG)..
Uniprot Description An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections.
Mondo Term and Equivalent IDs
MONDO:0013957: mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency