[Adenosine deaminase activity and immune dysfunction (author's transl)].
Deficiency of adenosine deaminase (ADA) in lymphocytes seems to be responsible for severe combined immunodeficiency (SCID), a syndrome in early infancy untreated resulting in death. The highest amounts of ADA activity are found in lymphoid tissues. Considerable enzyme deficiency is associated with an inhibition of proliferation and differentiation, especially of the T lymphocytes, and gives rise primarily to disordered cellular immunity. The molecular mechanisms of the relationship between enzyme deficiency and immune dysfunction are widely unknown. Several possibilities are discussed. Deoxyadenosine and its nucleotides seem to be the toxic agents. The enzyme deficiency is thought to result from a mutation at the structural locus of ADA inherited in an autosomal recessive mode. In addition to transplantation of bone marrow, fetal liver, or thymus the "enzyme replacement" has been suggested for therapy of SCID in ADA deficiency, i.e. transfusion of irradiated erythrocytes with normal ADA activity.
D000243:Adenosine Deaminase / Q000378:metabolism*; D016026:Bone Marrow Transplantation; D017707:Erythrocyte Transfusion; D005333:Fetus; D006801:Humans; D007111:Immunity, Cellular; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology* / Q000235:genetics / Q000628:therapy; D016031:Liver Transplantation; D008214:Lymphocytes / Q000201:enzymology; D009154:Mutation; D009700:Nucleoside Deaminases / Q000378:metabolism*; D013950:Thymus Gland / Q000637:transplantation
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase
Adenosin-Deaminase-Aktivität und Immundefekt.