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immunodeficiency 28
Summary
- Synonym
-
- IFNGR2 deficiency
- IMD28
- MSMD due to complete IFNgammaR2 deficiency
- MSMD due to complete interferon gamma receptor 2 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
- immunodeficiency 28, mycobacteriosis
- Definition
- A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111995
- Mondo Disease Ontology
- ORDO
- OMIM
