Term Name: | severe combined immunodeficiency 104 |
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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, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive |
Definition: | A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. |
Ontology: | Human Disease [DOID:0090014] ( DOID:0090014 ) |