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Cd3Epsilon Deficiency

Disease ID: disease_node_13324

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SubclassofDOID_0050737, DOID_627
Data SourceDOID
Doid LabelCD3epsilon deficiency
Doid DescriptionA 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_13324
Doid IdDOID_0060017
LabelCd3Epsilon Deficiency