Defects in CD3D are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]. A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Proximity Ligation Analysis (PLA) of protein-protein interactions between CD3D and CANX. ab103573 at 1/1200 staining CDED in HeLa cells with anti-CANX mouse monoclonal antibody 1/50. Signals were detected by Duolink® 30 Detection Kit 613(red), and nuclei were counterstained with DAPI (blue). Each red dot represents the detection of protein-protein interaction complex.