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

• ICD10CM:D81.1
• MESH:C563311
• MIM:601457
• ORDO:331206

Ontology

Human Disease   ( DOID:0090013 )