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

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Abstract

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 with a total of three NP deficient members were investigated.

Authors

William R. A. Osborne, Shi-Han Chen, Eloise R. Giblett, W. Douglas Biggar, Arthur A. Ammann, C. Ronald Scott