Term Name: CD3epsilon deficiency
Synonyms:
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.
Ontology: Human Disease [DOID:0060017]   ( DOID:0060017 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency