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Combined immunodeficiency and inborn errors of purine metabolism

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Conclusion

These findings have given us renewed hope of identifying the causes of other inborn immune defects and eventually of curing them. Continued studies may lead to development of better immunosuppressive drugs and to a deeper understanding of the influence of nucleic acid metabolism on immune function.

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Abbreviations

1. ADA:

Adenosine deaminase (EC 3.5.4.4)

2. SCID:

Severe combined immunodeficiency

3. T cell:

Thymus-derived lymphocyte

4. PNP:

Purine-nucleoside phosphorylase (EC 2.4.2.1)

5. ATP:

Adenosine triphosphate

6. Ig:

Immunoglobulin

7. B cell:

Bone marrow-derived lymphocyte

8. AMP:

Adenosine monophosphate

9. ADP:

Adenosine diphosphate

10. HLA:

Human leukocyte group A

11. MLC:

Mixed leukocyte culture

References

  1. Giblett, E. R., Anderson, J. E., Cohen, F., et al.: Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, LancetII, 1067 (1972)

    Google Scholar 

  2. Meuwissen, H. J., Pollara, B., Pickering, R. J., et al.: Combined immunodeficiency disease associated with ADA deficiency. J. Pediatr.86, 169 (1975)

    Google Scholar 

  3. Meuwissen, H. J., Pickering, R. J., Pollara, B., Porter, I. H. (eds.): Combined immunodeficiency disease and adenosine deaminase deficiency. A molecular defect. New York: Academic Press 1975

    Google Scholar 

  4. Yount, J., Nichols, P., Ochs, H. D., et al.: Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency. J. Pediatr.84, 173 (1974)

    Google Scholar 

  5. Keightley, R. G., Lawton, A. R., Cooper, M. D., et al.: Successful fetal liver transplantation in a child with severe combined immunodeficiency. Lancet2, 850 (1975)

    Google Scholar 

  6. Parkman, R., Gelfand, E. W., Rosen, F., et al.: Severe combined immunodeficiency and adenosine deaminase deficiency. New Engl. J. Med.2, 714 (1975)

    Google Scholar 

  7. Cederbaum, S. D., Kaitila, I., Rimoin, D. L., et al.: The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J. Pediatr.89, 737 (1976)

    Google Scholar 

  8. Trotta, P. P., Smithwick, E. M., Balis, M. E.: A normal level of adenosine deaminase activity in the red cell lysates of carriers and patients with severe combined immunodeficiency disease. Proc. Nat. Acad. Sci. USA73, 104 (1976)

    Google Scholar 

  9. Hitzig, W. H., Landolt, R., Mueller, G. et al.: Heterogeneity of phenotypic expression in a family with Swiss-type agammaglobulinemia. Observations on the acquisition of agammaglobulinemia. J. Pediatr.78, 968 (1971)

    Google Scholar 

  10. Ackeret, C., Plüss, H. J., Hitzig, W. H.: Hereditary severe combined immunodeficiency and adenosine deaminase deficiency. Pediatr. Res.10, 67 (1976)

    Google Scholar 

  11. Mills, G., Schmalstieg, F., Trimmer, K., et al.: Purine metabolism in adenosine deaminase deficiency. Proc. Nat. Acad. Sci. USA73, 2867 (1976)

    Google Scholar 

  12. Polmar, S., Stern, R., Schwartz, A., et al.: Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. New Engl. J. Med.295, 1337 (1976)

    Google Scholar 

  13. Schmalstieg, F. C., Nelson, J. A., Mills, G., et al.: Increased purine nucleotides in adenosine deaminase-deficient lymphocytes. J. Pediatr.91, 48 (1977)

    Google Scholar 

  14. Wolf, J. W., Anderson, J. A., Reid, R. H., et al.: Syndrome of cellular immunodeficiency with immunoglobulins associated with adenosine deaminase deficiency. Ped. Res.10, 394 (1976)

    Google Scholar 

  15. Cohen, A., Hirschhorn, R., Horowitz, S. et al.: Deoxyadenosine tryphosphate as a potentially toxic metabolite in adenosine deaminase deficiency. Proc. Nat. Acad. Sci.75, 472 (1978)

    Google Scholar 

  16. Lum, C. T., Sutherland, D., Najarian, J.: ADA inhibition and skin graft rejection. ADA inhibition for immunosuppression. New Engl. J. Med.296, 819 (1977)

    Google Scholar 

  17. Chassin, M. M., Chirigos, M. A., Johns, D., et al.: Adenosine deaminase inhibition for immunosuppression. New Engl. J. Med.296, 1232 (1977)

    Google Scholar 

  18. Burridge, P. W., Paetkau, V., Henderson, J. F.: Studies of the relationship between adenosine deaminase and immune function. J. Immunol.119, 675 (1977)

    Google Scholar 

  19. Ballet, J. J., Insel, R., Merler, E., et al.: Inhibition of maturation of human precursor lymphocytes by Coformycin, an inhibitor of the enzyme adenosine deaminase. J. Exp. Med.143, 1271 1976)

    Google Scholar 

  20. Carson, D., Seegmiller, J.: Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. J. Clin. Invest.57, 274 (1976)

    Google Scholar 

  21. Giblett, E., Amman, A., Wara, D., et al.: Nucleoside phosphorylase deficiency in a child with severe defective T-cell immunity and normal B-cell immunity. Lancet1, 1010 (1975)

    Google Scholar 

  22. Jenkins, T., Rabson, A., Nurse, G., et al.: Deficiency of adenosine deaminase not associated with severe combined immunodeficiency. J. Pediatr.89, 732 (1976)

    Google Scholar 

  23. Carter, R., Meuwissen, H. J.: Unpublished observations

  24. Borkowsky, W., Gershorn, A., Hirschhorn, R.: Adenosine deaminase deficiency without immunodeficiency. Ped. Res.12, 478 (1978)

    Google Scholar 

  25. Hershfield, M. S., Snyder, F. F., Seegmiller, J. E.: Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes. Science197, 1284 (1977)

    Google Scholar 

  26. Simmonds, H. A., Panayi, G. S., Corrigall, V.: A role for purine metabolism in the immune response: Adenosine-deaminase activity and deoxyadenosine catabolism. Lancet1, 60 (1978)

    Google Scholar 

  27. Wolberg, G., Zimmerman, T. P., Hiemstra, K.: Adenosine inhibition of lymphocyte mediated cytolysis. Possible role of cyclic adenosine monophosphate. Science187, 957 (1975)

    Google Scholar 

  28. Carson, D., Kaye, J., Seegmiller, J.: Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: Possible role of nucleoside kinase(s). Proc. Nat. Acad. Sci.74, 5677 (1977)

    Google Scholar 

  29. Van Der Weyden, M., Buckley, R., Kelley, W.: Molecular form of adenosine deaminase in severe combined immunodeficiency. Biochem. Biophys. Res. Comm.57, 590 (1974)

    Google Scholar 

  30. Hirschhorn, R., Beratis, N., Rosen, F. S.: Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: Evidence for a mutant enzyme. Proc. Nat. Acad. Sci. USA73, 213 (1976)

    Google Scholar 

  31. Chen, S., Scott, C., Giblett, E.: Adenosine deaminase: Demonstration of a “silent” gene associated with combined immunodeficiency disease. Am. J. Hum. Genet.26, 103 (1974)

    Google Scholar 

  32. Hirschhorn, R.: Defects of purine metabolism in immunodeficiency disease. Prog, in Clin. Immunol.3, 67 (1977)

    Google Scholar 

  33. Hirschhorn, R., Beratis, N., Rosen, F. S., et al.: Adenosine-deaminase deficiency in a child diagnosed prenatally. Lancet1, 73 (1975)

    Google Scholar 

  34. Schmallstieg, F. C., Goldblum, R. M., Mills, G. C., et al.: Effect of RBC transfusions on adenosine deaminase (ADA) deficient severe combined immunodeficiency (SCID). Fed. Res.11, 493 (1977)

    Google Scholar 

  35. Cohen, A., Doyle, D., Martin, D., et al.: Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. New Engl. J. Med.295, 1449 (1976)

    Google Scholar 

  36. Stoop, J. W., Zegers, B. J.M., Hendrickx, G. F. M., et al.: Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. New Engl. J. Med.296, 651 (1977)

    Google Scholar 

  37. Virelizier, J., Hamet, M., Ballet, J., et al.: Impaired defense against vaccinia in a child with T-lymphocyte deficiency associated with inosine phosphorylase defect. J. Pediatr.92, 358 (1978)

    Google Scholar 

  38. Biggar, W. D., Giblett, E., Ozere, R., et al.: A new form of nucleoside phosphorylase deficiency in two brothers with defective T-cell function. J. Pediatr.92, 354 (1978)

    Google Scholar 

  39. Siegenbeek van Heukelom, L. H., Staal, G. E. J., Stoop, J. W., et al.: An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell and normal B-cell immunity. Clin. Chim. Acta.72, 117 (1976)

    Google Scholar 

  40. Fox, I. H., Andres, C. M., Gelfand, E., et al.: Purine nucleoside phosphorylase deficiency: Altered kinetic properties of a mutant enzyme. Science197, 1084 (1977)

    Google Scholar 

  41. Stoop, J. W., Eijsvoogel, V. P., Zegers, B., et al.: Selective severe cellular immunodeficiency — effect of thymus transplantation and transfer factor administration. Clin. Immunol. Immunopathol.6, 289 (1976)

    Google Scholar 

  42. Hong, R., Gatti, R., Rathbun, J. C., et al.: Thymic hypoplasia and thyroid dysfunction. New Engl. J. Med.282, 470 (1970)

    Google Scholar 

  43. Agarwal, R. P., Crabtree, G. W., Parks, R. E., Jr., et al.: Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immuno-deficiency. J. Clin. Invest.57, 1025 (1976)

    Google Scholar 

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Supported in part by Clinical Studies Center Grant No. 2-MO-1-RR-00749-05

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Meuwissen, H.J., Pollara, B. Combined immunodeficiency and inborn errors of purine metabolism. Blut 37, 173–181 (1978). https://doi.org/10.1007/BF00996718

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