TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta-positive T-cell deficiency is a rare immune disorder that affects the body’s ability to fight infections. People with this condition experience recurrent respiratory infections, candidiasis, diarrhea, and can have challenges with growth (failure to thrive). This disorder is described as a non-severe combined immunodeficiency, meaning the immune system is not completely absent, but its function is impaired. Along with infections, features of immune dysregulation are common. These include a tendency toward herpes viral infections, high levels of eosinophils (hypereosinophilia), as well as skin and hair changes like vitiligo and alopecia areata. Laboratory tests show that the usual TCR-alpha-beta positive T-cells are mostly absent, while T-cells expressing TCR-gamma-delta are present.

Common signs and symptoms include repeated respiratory infections, candidiasis (a type of yeast infection), diarrhea, and failure to thrive. People with this condition may also have a predisposition to herpes infections, swollen lymph nodes (lymphadenopathy), enlargement of the liver and spleen (hepatosplenomegaly), high eosinophil counts, and skin conditions such as vitiligo and hair loss (alopecia areata).

TCR-alpha-beta-positive T-cell deficiency is linked to changes in the immune system, including a genetic alteration in the TRAC gene. The mutation affects the T-cell receptor, leading to an imbalance where cells bearing the TCR-alpha-beta are very low, while those with TCR-gamma-delta are more common. This genetic cause contributes to the problems with the immune response seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.