immunodeficiency 33
Information
- Disease name
- immunodeficiency 33
- Disease ID
- DOID:0112003
- Description
- "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/15356572/, url:https\://pubmed.ncbi.nlm.nih.gov/31965418/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111962
- Cross Reference ID (Disease Ontology)
- MESH:C567070
- Cross Reference ID (Disease Ontology)
- MIM:300636
- Exact Synonym (Disease Ontology)
- IMD33
- Exact Synonym (Disease Ontology)
- X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
- Exact Synonym (Disease Ontology)
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
- Exact Synonym (Disease Ontology)
- X-linked MSMD due to IKBKG deficiency
- Exact Synonym (Disease Ontology)
- X-linked MSMD due to NEMO deficiency