Adenosindesaminase-Mangel bei prim�ren Immundefizienzen

Abstract

The occurrence of severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency in erythrocytes has been reported in 14 patients. Enzyme deficiency may result in early depression of the lymphatic system. ADA is detectable in different tissues by photometric and electrophoretic methods. The gene locus for ADA has been localised on chromosome 20. Studies on the enzyme defect in different forms of primary immunodeficiencies led to the description of a well defined nosological entity. New aspects can be expected in the fields of pathogenesis, prenatal diagnosis, genetic councelling, and possibly therapeutic trials.

Adenosine Deaminase Activity in Plasma and Blood Cells of Patients with Haematological and Autoimmune Diseases

“…A causal relation of ADA to immunological functions in severe com bined immunodeficiency patients is proba bly due to excessive buildup of ATP in the cells with inhibition of DNA synthesis by feedback mechanism of ribonucleotide re ductase [1,5,8], An important addition to this relation were the informations on a clinically healthy, immunologically normal Kung boy (of the Kalahari Desert in South Africa [13] and a 2.5-year-old immunologi cally normal child (New York State) who had both been found to lack ADA in their erythrocytes [9].…”