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Cd3Gamma Deficiency

Disease ID: disease_node_13323

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SubclassofDOID_0050737, DOID_627
Data SourceDOID
Doid LabelCD3gamma deficiency
Doid DescriptionA 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_13323
Doid IdDOID_0060018
LabelCd3Gamma Deficiency