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Defective expression of HLA class I antigens: A case of the bare lymphocyte without immunodeficiency

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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.

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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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • O'Farrell, P. H.: High resolution two-dimensional electrophoresis of proteins. J. Biol. Chem. 250: 4007–4021, 1975

    Google Scholar 

  • Payne, R., Brodsky, F. M., Peterlin, M., and Young, L. M.: “Bare lymphocytes” without immunodeficiency. Hum. Immunol. 6: 219–227, 1983

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • Touraine, J. L.: The bare-lymphocyte syndrome: Report on the registry. Lancet 1: 319–321, 1981

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

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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

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  • DOI: https://doi.org/10.1007/BF00395879

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