[Adenosine deaminase deficiency in primary immunodeficiencies (author's transl)].
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.
D000243:Adenosine Deaminase / Q000032:analysis / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology*; D009700:Nucleoside Deaminases / Q000172:deficiency*
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase
Adenosindesaminase-Mangel bei primären Immundefizienzen