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immunodeficiency 27B
Summary
- Synonym
-
- IMD27B
- autosomal dominant IFNGR1 deficiency
- autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- autosomal dominant MSMD due to partial interferon gamma receptor 1 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
- 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.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111956
- Mondo Disease Ontology
- ORDO
- OMIM
