Severe Combined Immunodeficiency (JAK3)

Severe combined immunodeficiency (JAK3-related) is an autosomal recessive disorder caused by pathogenic variants in the gene JAK3. This congenital disorder has infantile or early childhood onset and is characterized by impairment of both humoral and cell-mediated immunity, leukopenia, low or absent antibody levels, normal to elevated numbers of nonfunctional B lymphocytes, and marked hypoplasia of lymphoid tissues, with affected infants presenting with recurrent and persistent infections. Affected individuals may also develop chronic diarrhea, oral thrush, pneumonia, skin rashes, meningitis, and failure to thrive. If a bone marrow transplantation is not performed, the life expectancy for this disorder is limited.

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

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