DiGeorge syndrome

The DiGeorge syndrome - An immunodeficiency disorder that results in a failure of the immune system’s cells to fight infection. The disorder is hereditary and congenital (present at birth). In DiGeorge syndrome, the thymus gland is absent or fails to develop normally.

The thymus is a key part of the immune system, so its absence may allow persistent, serious infections to develop. Children with DiGeorge syndrome are susceptible to opportunistic infections, such as candidiasis (thrush), and there may be evidence of failure to thrive (restricted growth). In addition, heart abnormalities and hypocalcaemia (abnormally low levels of calcium in the blood) may occur.

Transplants of thymus tissue, or bone marrow transplants, may be successful in treating the immunodeficiency.