Skip to main content
Clinical and Experimental Immunology logoLink to Clinical and Experimental Immunology
. 1979 Jun;36(3):364–370.

Immunological investigation in adenine phosphoribosyl transferase (APRT) deficiency.

W J Stevens, M E Peetermans, K J Van Acker
PMCID: PMC1537751  PMID: 487640

Abstract

In a family with partial or total adenine phosphoribosyl transferase (APRT) deficiency, T and B cell function was evaluated by counting rosette-forming cells, by investigating lymphocyte transformation to phytohaemagglutinin (PHA), concanavalin A (Con A) and pokeweed mitogen (PWM), by assaying serum immunoglobulins and determining lymphocyte membrane immunoglobulins by immunofluorescence. Delayed cutaneous hypersensitivity was also assayed. The absence of gross immunological deficiency in the homozygotes, as well as in the heterozygotes, suggests that the APRT-mediated pathway of purine metabolism is relatively unimportant for lymphocyte function.

Full text

PDF
364

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Allison A. C., Hovi T., Watts R. W., Webster A. D. Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation. Lancet. 1975 Dec 13;2(7946):1179–1183. doi: 10.1016/s0140-6736(75)92661-6. [DOI] [PubMed] [Google Scholar]
  2. Allison A. C., Hovi T., Watts R. W., Webster A. D. The role of de novo purine synthesis in lymphocyte transformation. Ciba Found Symp. 1977;(48):207–224. doi: 10.1002/9780470720301.ch13. [DOI] [PubMed] [Google Scholar]
  3. Biggar W. D., Giblett E. R., Ozere R. L., Grover B. D. A new form of nucleoside phosphorylase deficiency in two brothers with defective T-cell function. J Pediatr. 1978 Mar;92(3):354–357. doi: 10.1016/s0022-3476(78)80418-1. [DOI] [PubMed] [Google Scholar]
  4. Bottomly H. K., Perkins W. D., Schwarz M. R. 3H-uridine incorporation by small lymphocytes of tolerant rats: relationship to T and B lymphocytes. J Immunol. 1975 Sep;115(3):648–652. [PubMed] [Google Scholar]
  5. Cohen A., Doyle D., Martin D. W., Jr, Ammann A. J. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med. 1976 Dec 23;295(26):1449–1454. doi: 10.1056/NEJM197612232952603. [DOI] [PubMed] [Google Scholar]
  6. Czlonkowska A., Zdzienicka-Tulczyńska E. Letter: Immunology of Lesch-Nyhan syndrome. Lancet. 1976 Apr 17;1(7964):863–863. doi: 10.1016/s0140-6736(76)90519-5. [DOI] [PubMed] [Google Scholar]
  7. Dean B. M., Perrett D., Simmonds H. A., Sahota A., Van Acker K. J. Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families. Clin Sci Mol Med. 1978 Oct;55(4):407–412. doi: 10.1042/cs0550407. [DOI] [PubMed] [Google Scholar]
  8. Giblett E. R., Ammann A. J., Wara D. W., Sandman R., Diamond L. K. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1975 May 3;1(7914):1010–1013. doi: 10.1016/s0140-6736(75)91950-9. [DOI] [PubMed] [Google Scholar]
  9. Giblett E. R., Anderson J. E., Cohen F., Pollara B., Meuwissen H. J. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972 Nov 18;2(7786):1067–1069. doi: 10.1016/s0140-6736(72)92345-8. [DOI] [PubMed] [Google Scholar]
  10. Howard J. C., Hunt S. V., Gowans J. L. Identification of marrow-derived and thymus-derived small lymphocytes in the lymphoid tissue and thoracic duct lymph of normal rats. J Exp Med. 1972 Feb 1;135(2):200–219. doi: 10.1084/jem.135.2.200. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Meuwissen H. J., Pollara B., Pickering R. J. Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973. J Pediatr. 1975 Feb;86(2):169–181. doi: 10.1016/s0022-3476(75)80463-x. [DOI] [PubMed] [Google Scholar]
  12. Polmar S. H. Lymphocyte enzyme deficiencies and the metabolic basis of immunodeficiency disease. Clin Haematol. 1977 Jun;6(2):423–438. [PubMed] [Google Scholar]
  13. Polmar S. H., Stern R. C., Schwartz A. L., Wetzler E. M., Chase P. A., Hirschhorn R. Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med. 1976 Dec 9;295(24):1337–1343. doi: 10.1056/NEJM197612092952402. [DOI] [PubMed] [Google Scholar]
  14. Polmar S. H., Wetzler E. M., Stern R. C., Hirschhorn R. Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency. Lancet. 1975 Oct 18;2(7938):743–746. doi: 10.1016/s0140-6736(75)90726-6. [DOI] [PubMed] [Google Scholar]
  15. Schumm D. E., Webb T. E. Induction of uridine kinase in rat peripheral blood lymphocytes: dependence on mitogen specificity and effect of pyrimidine analogs. Cell Immunol. 1975 Feb;15(2):479–483. doi: 10.1016/0008-8749(75)90026-x. [DOI] [PubMed] [Google Scholar]
  16. Scott D. W., Josephs S. H. Uridine labeling of human lymphocytes: differential uptake by T and B cells. Cell Immunol. 1975 Nov;20(1):64–68. doi: 10.1016/0008-8749(75)90084-2. [DOI] [PubMed] [Google Scholar]
  17. Scott D. W., McKenzie R. G. Rat B cells: identity of immunoglobulin-bearing cells with a population of lightly uridine-labeled cells. Cell Immunol. 1974 Apr;12(1):61–65. doi: 10.1016/0008-8749(74)90056-2. [DOI] [PubMed] [Google Scholar]
  18. Simmonds H. A., Panayi G. S., Corrigall V. A role for purine metabolism in the immune response: Adenosine-deaminase activity and deoxyadenosine catabolism. Lancet. 1978 Jan 14;1(8055):60–63. doi: 10.1016/s0140-6736(78)90002-8. [DOI] [PubMed] [Google Scholar]
  19. Stoop J. W., Eijsvoogel V. P., Zegers B. J., Blok-Schut B., van Bekkum D. W., Ballieux R. E. Selective severe cellular immunodeficiency. Effect of thymus transplantation and transfer factor administration. Clin Immunol Immunopathol. 1976 Nov;6(3):289–298. doi: 10.1016/0090-1229(76)90081-7. [DOI] [PubMed] [Google Scholar]
  20. Stoop J. W., Zegers B. J., Hendrickx G. F., van Heukelom L. H., Staal G. E., de Bree P. K., Wadman S. K., Ballieux R. E. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. N Engl J Med. 1977 Mar 24;296(12):651–655. doi: 10.1056/NEJM197703242961203. [DOI] [PubMed] [Google Scholar]
  21. Virelizier J. L., Hamet M., Ballet J. J., Reinert P., Griscelli C. Impaired defense against vaccinia in a child with T-lymphocyte deficiency associated with inosine phosphorylase defect. J Pediatr. 1978 Mar;92(3):358–362. doi: 10.1016/s0022-3476(78)80419-3. [DOI] [PubMed] [Google Scholar]

Articles from Clinical and Experimental Immunology are provided here courtesy of British Society for Immunology

RESOURCES