Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother.

An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity.

1. Purine nucleoside phosphorylase and adenosine deaminase (ADA) were studied in normal red blood cells and lymphocytes and in the cells of a family with a child with a defective T-cell-and normal B-cell immunity. 2.

Characterization of adenosine deaminase isozymes from normal human erythrocytes.

Adenosine deaminase of phenotype ADA was partially purified by chromatography on CM-Sephadex C-50 and ammonium sulphate precipitation. With DEAE-Sephadex A-50 three isozymes could be detected. a.