Metadata | |
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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 | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |