immunodeficiency 35
Information
- Disease name
- immunodeficiency 35
- Disease ID
- DOID:0111989
- Description
- "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2." [url:https\://pubmed.ncbi.nlm.nih.gov/26304966/]
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:C566928
- Cross Reference ID (Disease Ontology)
- MIM:611521
- Cross Reference ID (Disease Ontology)
- ORDO:331226
- Exact Synonym (Disease Ontology)
- autosomal recessiv HIES with atypical mycobacteriosis
- Exact Synonym (Disease Ontology)
- autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis
- Exact Synonym (Disease Ontology)
- IMD35
- Exact Synonym (Disease Ontology)
- susceptibility to infection due to TYK2 deficiency
- Exact Synonym (Disease Ontology)
- TYK2 deficiency
- Exact Synonym (Disease Ontology)
- tyrosine kinase 2 deficiency