Immunological investigation in adenine phosphoribosyl transferase (APRT) deficiency.
In a family with partial or total adenine phosphoribosyl transferase (APRT) deficiency, T and B cell function was evaluated by counting rosette-forming cells, by investigating lymphocyte transformation to phytohaemagglutinin (PHA), concanavalin A (Con A) and pokeweed mitogen (PWM), by assaying serum immunoglobulins and determining lymphocyte membrane immunoglobulins by immunofluorescence. Delayed cutaneous hypersensitivity was also assayed. The absence of gross immunological deficiency in the homozygotes, as well as in the heterozygotes, suggests that the APRT-mediated pathway of purine metabolism is relatively unimportant for lymphocyte function.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007958:Leukocyte Count; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000276:immunology; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000276:immunology*; D010430:Pentosyltransferases / Q000172:deficiency*; D011947:Receptors, Antigen, B-Cell / Q000032:analysis; D012397:Rosette Formation
D007136:Immunoglobulins; D011947:Receptors, Antigen, B-Cell; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase