Term Name: | CD3gamma deficiency |
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Synonyms: | |
Definition: | A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. |
Ontology: | Human Disease [DOID:0060018] ( DOID:0060018 ) |