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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614893
Orphanet:319600
UMLS:C3808589
MONDO:0013957
High level summary of knowledge for a disease, including descriptions and datasource references.