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.

This gene is included on the following panel(s):