Term Name: | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive |
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Synonyms: | autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID, autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID, interleukin-7 receptor alpha deficiency, severe combined immunodeficiency 104 |
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. |
Ontology: | Human Disease [DOID:0090014] ( DOID:0090014 ) |