Severe Combined Immunodeficiency (PTPRC)
Severe combined immunodeficiency (PTPRC-related) is an autosomal recessive disorder caused by pathogenic variants in the gene PTPRC (CD45). This disorder is associated with a defect in the function and/or development of B and T lymphocytes which results in lymphopenia and a deficiency in humoral and cell-mediated immunity. If a bone marrow transplantation is not performed, this disorder is life-threatening within the first few months following the onset of clinical manifestations.
For information about carrier frequency and residual risk, please see the residual risk table.