[Deficiency of adenosine desaminase (ADA): clinical, biochemical, molecular and treatment aspects].

Adenosine Desaminase (ADA) deficiency, is a purine metabolic disorder that cause severe combined immunodeficiency (SCID) due to the accumulation of toxic metabolites that primarily affects development, differentiation and function of T and B lymphocytes. In addition, some patients show neurological, renal and liver abnormalities, delayed in development, deafness and seizures. If the immune response is not restored, children with this disorder rarely survive; therefore, ADA deficiency must be suspected when difficulty gaining weight, recurrent infections and skeletal abnormalities are present. The ADA deficiency has clinical and immunological characteristics not seen in other immunodeficiencies, data that helps to guide the diagnosis and therapy. This review summarizes clinical, pathological, molecular and treatment findings described in this disease.