Abstract
A case of the bare lymphocyte without apparent immunodeficiency was observed in a 33-year-old woman who had no history of severe infections but suffered from sino-bronchial disease. No HLA-A and -B antigens (class I antigens) were detected at the cell surface of lymphocytes, granulocytes, and platelets, but they were expressed, although at a reduced level, on the cultured B lymphoid cell line. T lymphocytes were normal in number and in the relative proportion of T4/T8 and responded to mitogens but not to PPD and candida. HLA-DR antigens (class II antigens) were present on B lymphocytes and showed intermediate MLR-stimulatory capacity, which made it possible to deduce the patient's HLA genotype. She was found to be homozygous at consanguinity for HLA-A, -B, and -DR antigens. The numbers of B lymphocytes, immunoglobulins, and complements were all in the normal range; there was, however, a low level of IgM. Two-dimensional gel analysis of class I antigens revealed the presence of normally expressed beta-2 microglobulins (B2M) and an apparently single set of class I heavy chains, allowing us to consider two alternative cellular mechanisms in this defect; the presence of one abnormal class I structural gene and the regulatory mechanism that acted in cis were suggested.
Similar content being viewed by others
Abbreviations
- MLR:
-
mixed lymphocyte culture reaction
- B2M:
-
beta-2 microglobulin
- 2-D:
-
two-dimensional
- IEF:
-
isoelectric focusing
- SDS:
-
sodium dodecyl sulfate
- PAGE:
-
polyacrylamide gel electrophoresis
- MoAb:
-
monoclonal antibody
- PBS:
-
phosphate-buffered saline
- BSA:
-
bovine serum albumin
- PHA:
-
phytohemagglutinin
- PWM:
-
pokeweed mitogen
- mol. wt.:
-
molecular weight
References
Biddison, W. E., Payne, S. M., Shearer, G. M., and Shaw, S.: Human cytotoxic T-cell responses to trinitrophenyl hapten and influenza virus. J. Exp. Med. 152: 204–217s, 1980
Danilovs, J., Terasaki, P. I., Park, M. S., and Ayoub, G.: B lymphocyte isolation by thrombin-nylon wool. In P. I. Terasaki (ed.): Histocompatibility Testing 1980, pp. 287–288, UCLA press, Los Angeles, California, 1980
Homma, H., Yamanaka, A., Tanimoto, S., Tamura, M., Chijimatsu, Y., Kira, S., and Izumi, T.: Diffuse panbronchiolitis: A disease of the transitional zone of the lung. Chest 83: 63–69, 1983
Maeda, H. and Juji, T.: A new B-cell alloantigen, TB21, coded for in the HLA-D/DR region. Tissue Antigens 20: 327–334, 1982
Maeda, H., Hirata, R., Okuyama, M., Thompson, A., and Tohyama, H.: Two-dimensional gel analysis of a second family of class II molecules by polymorphic HLA-DR4, 5 and w9 monoclonal antibodies. J. Immunol. 132: 2478–2484, 1984
McMichael, A. J., Ting, A., Zveerink, H. J., and Askonas, B. A.: HLA restriction of cell-mediated lysis of influenza virus-infected human cells. Nature 270: 524–526, 1977
McMichael, A. J., Pilch, J. R., Galfre, G., Mason, D. Y., Fabre, J. W., and Milstein, C.: A human thymocyte antigen defined by a hybrid myeloma monoclonal antibody. Eur. J. Immunol. 9: 205–210, 1979
Müller, C., Stein, H., Ziegler, A., and Wernet, P.: Quantitative and qualitative differences in the distribution of HLA class I antigenic determinants in the human thymic compartments. Eur. J. Immunol. 13: 414–418, 1983
O'Farrell, P. H.: High resolution two-dimensional electrophoresis of proteins. J. Biol. Chem. 250: 4007–4021, 1975
Payne, R., Brodsky, F. M., Peterlin, M., and Young, L. M.: “Bare lymphocytes” without immunodeficiency. Hum. Immunol. 6: 219–227, 1983
Schuurman, R. K. B., van Rood, J. J., Vossen, J. M., Schellekens, P. T. A., Feltkamp-Vroom, T. M., Doyer, E., Gmelig-Meyling, F., and Visser, H. K. A.: Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency. Clin. Immunol. Immunopathol. 14: 418–434, 1979
Strominger, J. L., Engelhard, V. H., Fuks, A., Guild, B. C., Hyafil, F., Kaufman, J. F., Korman, A. J., Kostyk, T. G., Krangel, M. S., Lancet, D., Lopez de Gastro, J. A., Mann, D. L., Orr, H. T., Parham, P. R., Parker, K. C., Ploegh, H. L., Pober, J. S., Robb, R. J., and Shackelford, D. A.: The biochemical analysis of products of the MHC. In M. E. Dorf (ed.): The Role of the Major Histocompatibility Complex in Immunobiology, pp. 115–172, Garland STPM Press, New York, 1981
Touraine, J. L.: The bare-lymphocyte syndrome: Report on the registry. Lancet 1: 319–321, 1981
Touraine, J. L., Betuel, H., Souillet, G., and Jenne, M.: Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. J. Pediatr. 93: 47–51, 1978
van Rood, J. J., de Vries, R. R. P., and Bradley, B. A.: Genetics and biology of the HLA system. In M. E. Dorf (ed.): The Role of the Major Histocompatibility Complex in Immunobiology, pp. 59–113, Garland STPM Press, New York, 1981
Vasilov, R. G., Hahn, A., Molders, H., van Rood, J. J., Breuning, M., and Ploegh, H. L.: Analysis of human class I antigens by two-dimensional gel electrophoresis. I. Polymorphism, evidence for additional (non-HLA-A, B, C) gene products, and identification of variant HLA-A, B antigens. Immunogenetics 17: 333–356, 1983
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Maeda, H., Hirata, R., Chen, RF. et al. Defective expression of HLA class I antigens: A case of the bare lymphocyte without immunodeficiency. Immunogenetics 21, 549–558 (1985). https://doi.org/10.1007/BF00395879
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00395879