Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids.
A specific competitive radioimmunoassay (RIA) was employed to quantify human adenosine deaminase molecules produced in human-Chinese hamster somatic cell hybrids. Studies on a set of hybrids in which the normal and aberrant expressions of adenosine deaminase (assigned earlier to human chromosome 20) were segregating, have demonstrated that in the patient with ADA-SCID disease reported by Herbschleb-Voogt et al. (1981 a), the deficiency of ADA activity was associated with a comparable deficiency of adenosine deaminase specific immuno-crossreacting material (ADA-CRM).
D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics*; D000818:Animals; D002460:Cell Line; D002999:Clone Cells; D006224:Cricetinae; D003412:Cricetulus; D006367:HeLa Cells / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells / Q000201:enzymology*; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D009700:Nucleoside Deaminases / Q000235:genetics*; D011863:Radioimmunoassay
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase