immunodeficiency 27B
Information
- Disease name
- immunodeficiency 27B
- Disease ID
- DOID:0111956
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/10192386/, 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:615978
- Cross Reference ID (Disease Ontology)
- ORDO:319581
- Exact Synonym (Disease Ontology)
- autosomal dominant IFNGR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal dominant immunodeficiency 27B, mycobacteriosis
- Exact Synonym (Disease Ontology)
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
- Exact Synonym (Disease Ontology)
- IMD27B