| Metadata | |
|---|---|
| ID | DOID:0090013 |
| Name | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/1940786 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID [EXACT] SCID due to complete RAG1-2 deficiency [EXACT] Severe combined immunodeficiency due to complete RAG1-2 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |