CD3epsilon deficiency

Term ID

DOID:0060017

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. https://www.ncbi.nlm.nih.gov/pubmed/16264327

References

Ontology

Human Disease   ( DOID:0060017 )