Disease

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.

Synonyms

autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
SCID due to complete RAG1-2 deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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