immunodeficiency 28
Information
- Disease name
- immunodeficiency 28
- Disease ID
- DOID:0111995
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/11335769/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:612
- Cross Reference ID (Disease Ontology)
- MIM:614889
- Cross Reference ID (Disease Ontology)
- ORDO:319547
- Exact Synonym (Disease Ontology)
- IFNGR2 deficiency
- Exact Synonym (Disease Ontology)
- IMD28
- Exact Synonym (Disease Ontology)
- immunodeficiency 28, mycobacteriosis
- Exact Synonym (Disease Ontology)
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
- Exact Synonym (Disease Ontology)
- Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
- Exact Synonym (Disease Ontology)
- MSMD due to complete IFNgammaR2 deficiency
- Exact Synonym (Disease Ontology)
- MSMD due to complete interferon gamma receptor 2 deficiency