PTPRC Antibody

Background:

FUNCTION: Required for T-cell activation through the antigen receptor. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.

DISEASE: Defects in PTPRC are a cause of autosomal recessive severe combined immunodeficiency T cell-negative/B cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]. SCID refers to a genetically and clinically group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development.