Immunodeficiency 19 (CD3D)

Immunodeficiency 19 is an autosomal recessive disorder caused by pathogenic variants in the gene CD3D. This severe combined immunodeficiency disorder is characterized by the complete absence of T-cells. Affected individuals experience recurrent respiratory infections from early infancy, failure to thrive, and chronic diarrhea. If a bone marrow transplantation is not performed, the condition is usually fatal within the first two years of life.

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

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