NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE HAEMOLYTIC ANAE MIA AND SELECTIVE T-CELL DEFICIENCY

Abstract

Recently three patients with a severely defective T-cell immunity and no measurable activity of purine nucleoside phosphorylase (NP) were described. We had the occasion to observe a 22 months old girl with NP deficiency who was referred to us because of haemolytic anaemia which proved to be due to IgG and IgM incomplete warm autoantibodies against red cells. A CMV infection was diagnosed and a bilateral infiltration on chest roentgenograra was evident 4 weeks after admission. The NP activity of the red cells and granulocytes was absent. The parents are both heterozygous for the NP deficiency as well as both grandmothers, whose mothers are half-sisters. T-cell deficiency was demonstrated by negative skin tests to PHA, Varidase and Candida, by absence of E-rosette forming cells, total impairment of in vitro mitogenic response and mixed-lymphocyte reaction. The percentage of surface Ig-bearing lymphocytes and all serum immunoglobulin levels were normal. The clinical history will be fully discussed.