| Metadata | |
|---|---|
| ID | DOID:0060017 |
| Name | CD3epsilon deficiency |
| Definition | A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. https://www.ncbi.nlm.nih.gov/pubmed/16264327 |
| Parent Relationships |