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DOID:0111986 - immunodeficiency 32A
Disease Ontology 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.
Synonyms: IMD32A, MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency, immunodeficiency 32A, mycobacteriosis, autosomal dominant,
Xenbase Genes
:
irf8
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)