Term Name: | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive |
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Synonyms: | SCID due to complete RAG1-2 deficiency, Severe combined immunodeficiency due to complete RAG1-2 deficiency |
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. |
Ontology: | Human Disease [DOID:0090013] ( DOID:0090013 ) |