Purine Nucleoside Phosphorylase Deficiency: EVIDENCE FOR MOLECULAR HETEROGENEITY IN TWO FAMILIES WITH ENZYME-DEFICIENT MEMBERS

摘要: Purine-nucleoside phosphorylase (NP) deficiency is associated with severely defective thymus-derived (T)-cell and normally functioning bone marrow-derived (B)-cell immunity. In this study, two unrelated families a total of three NP deficient members were investigated. High pressure liquid chromatography the plasma patients showed inosine levels greater than 66 muM. This nucleoside was absent from their parents control samples.NP purified normal human erythrocytes by affinity an antiserum prepared in rabbits used to study variants families. family M patient had no detectable erythrocyte activity immunological-reacting material (irm) antibody. The parents, who are second cousins, less one-half enzyme approximately 14% irm attributable variant protein. Their electrophoretic patterns revealed series isozymes slower migration. B 0.5% residual about irm. pattern faintly staining bands which migrated faster NP. mother activity, 11% her protein, pattern. father equal amounts irm, that increased more rapidly migrating isozyme bands.The combined use immunological techniques has shown presence separate mutations; one T-cell function.