Common variable immunodeficiency and purine nucleotidase and nucleoside phosphorylase deficiency. A case report.
The results of immunological and purine enzyme investigations in an adult male patient with common variable immunodeficiency, recurrent lymph node granuloma and splenomegaly are presented. Serum immunoglobulins were present in trace amounts only and a progressive loss of Ig-bearing peripheral lymphocytes were demonstrated. Furthermore, the mitogenic responses to PHA. ConA and PWM were markedly reduced and the ratio of T.m/T.g cells was decreased. Finally, a combined deficiency of lymphocyte purine 5-nucleoside phosphorylase was demonstrated in the patient.
D000328:Adult; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D007958:Leukocyte Count; D008214:Lymphocytes / Q000201:enzymology* / Q000276:immunology; D008297:Male; D009708:Nucleotidases / Q000172:deficiency* / Q000276:immunology; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000276:immunology
D007136:Immunoglobulins; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase; D009708:Nucleotidases