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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
Summary
- Synonym
-
- SCID due to complete RAG1-2 deficiency
- Severe combined immunodeficiency due to complete RAG1-2 deficiency
- autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
- 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.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0090013
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
