Immunodeficiency 18 (CD3E)

Immunodeficiency 18 is an autosomal recessive disorder caused by pathogenic variants in the gene CD3E. This primary immunodeficiency disorder is characterized by recurrent infections in infancy or early childhood. The severity of this disorder varies from mild to severe, and correlates with the disruption of T-cell development. Patients with the severe form have complete absence of T-cells and require bone marrow transplantation in the first 3 to 4 months of life without pre-transplant chemotherapy. Early death can occur in some patients without immune reconstitution.

For information about carrier frequency and residual risk, please see the residual risk table.

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