Term Name: | immunodeficiency 17 |
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Synonyms: | CD3-gamma deficiency, IMD17, immunodeficiency 17, CD3 gamma deficient, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive |
Definition: | A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. |
Ontology: | Human Disease [DOID:0111973] ( DOID:0111973 ) |