Adenosine deaminase deficiency

Deficiency of adenosine deaminase (ADA) produces a severe combined immunodeficiency but not anaemia.  However, a very elevated ADA activity is a rare cause of congenital haemolytic anaemia.

Transmission Mode

This defect is transmitted as autosomal dominant trait and has been described in only four unrelated families.

Elevated ADA is also seen in Diamond-Blackfan Anaemia (DBA).