Immunotherapy and immunopathologic studies in a patient with nucleoside phosphorylase deficiency

Abstract

The results of immunotherapy and immunopathologic studies are described in a patient with nucleoside phosphorylase deficiency, normal B cell function, and severe absence of T cell function. Treatment for 9 months with bovine thymosin F5 at a dose of 1 mg/kg/week resulted in an increase in the percentage of E rosettes and the total number of T cells, and a return of the PHA and MLC response to greater than 50% of normal control values. With the development of systemic type 1 reactions following thymosin administration, therapy was discontinued. Immunologic studies returned to previous abnormal values. Treatment with oral uridine in a dose of 100 mg/kg/day for 9 months resulted in an increase in the percentage of E rosettes, an increase in the number of T cells, and an improved lymphocyte response to PHA. The MLC remained abnormal. Although the patient remained clinically well for 8 months, she then developed varicella which rapidly progressed to death, in spite of treatment with zoster immune plasma and adenine arabinoside. At autopsy, depletion of T cell-dependent areas in lymphoid tissue was observed. However, numerous plasma cells were present in which the cytoplasm stained for immunoglobulin. The thymus was reduced in size but had a suggestion of corticomedullary differentiation, and numerous Hassals corpuscles were observed. The results in this patient emphasize the susceptibility of nucleoside phosphorylase-deficient individuals to certain viral infections and suggest that additional immunotherapeutic and/or biochemical treatment is needed.