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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
Summary
- Synonym
-
- autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
- 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.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
