immunodeficiency 27A
Information
- Disease name
- immunodeficiency 27A
- Disease ID
- DOID:0111955
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/8960473/, url:https\://pubmed.ncbi.nlm.nih.gov/8960475/]
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)
- MESH:C535530
- Cross Reference ID (Disease Ontology)
- MIM:209950
- Cross Reference ID (Disease Ontology)
- ORDO:319569
- Exact Synonym (Disease Ontology)
- autosomal recessive IFNGR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal recessive immunodeficiency 27A, mycobacteriosis
- Exact Synonym (Disease Ontology)
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal recessive MSMD due to partial IFNgammaR1 deficiency
- Exact Synonym (Disease Ontology)
- autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
- Exact Synonym (Disease Ontology)
- IMD27A