Search Ontology:
Human Disease

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

Term ID
DOID:0090013
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. https://www.ncbi.nlm.nih.gov/pubmed/1940786
References
Ontology
Human Disease   ( DOID:0090013 )
Relationships
is a type of
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Genes Involved
Zebrafish Models