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Disease Ontology Browser
immunodeficiency 27B (DOID:0111956)
Alliance: disease page
Synonyms: autosomal dominant IFNGR1 deficiency; autosomal dominant immunodeficiency 27B, mycobacteriosis; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency; IMD27B
Alt IDs: OMIM:615978, ORDO:319581
Definition: A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory