Term Name: | immunodeficiency 19 |
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Synonyms: | CD3-delta deficiency, IMD19, SCID T cell-negative, B cell-positive, NK cell-positive, severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive |
Definition: | A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. |
Ontology: | Human Disease [DOID:0111972] ( DOID:0111972 ) |