Disease

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

Definition

A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Synonyms

autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
interleukin-7 receptor alpha 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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