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immunodeficiency 27A
Summary
- Synonym
-
- IMD27A
- autosomal recessive IFNGR1 deficiency
- autosomal recessive MSMD due to partial IFNgammaR1 deficiency
- autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
- autosomal recessive immunodeficiency 27A, mycobacteriosis
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Definition
- A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111955
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
