| Metadata | |
|---|---|
| ID | DOID:0060018 |
| Name | CD3gamma deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16264327 |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |