We studied a 22 months-old girl with severe selective T-cell deficiency and no measurable purine nucleoside phosphorylase activity in the RBC and granulocytes. No inhibitor was found in the patient's erythrocytes. Her parents are second cousins and their red cells exhibited about half the normal level of NP activity. The identification of heterozygotes within a three generation pedigree confirms that PNP deficiency is inherited as a mendelian autosomal trait and that erythrocytes can be used for carrier detection.
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Con il contributo del Ministero per i Beni e le Attività Culturali