severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
Information
- Disease name
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
- Disease ID
- DOID:0090013
- Description
- "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1940786]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:627
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.1
- Cross Reference ID (Disease Ontology)
- MESH:C563311
- Cross Reference ID (Disease Ontology)
- MIM:601457
- Cross Reference ID (Disease Ontology)
- ORDO:331206
- Exact Synonym (Disease Ontology)
- autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
- Exact Synonym (Disease Ontology)
- SCID due to complete RAG1-2 deficiency
- Exact Synonym (Disease Ontology)
- Severe combined immunodeficiency due to complete RAG1-2 deficiency