Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency

Schuurman, R. K. B.; Rood, Jon J. van; Vossen, Jaak M.; Schellekens, P. T. A.; Feltkamp-Vroom, Th.M.; Doyer, E.; Gmelig-Meyling, F.H.J.; Visser, H. K. A.

doi:10.1016/0090-1229(79)90094-1

Cited by 64 publications

(23 citation statements)

References 22 publications

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“…Immunological data of the two male patients KD [ 13] and TF [12,16,17] have been described previously and are summarized in Table 1. Both cases were diagnosed as combined immunodeficiency.…”

Section: Patients and Controlsmentioning

confidence: 99%

“…Patients with combined immunodeficiency disease associated with defective expression of HLA of class I and in some cases also of class I1 on blood mononuclear cells (so-called "bare lymphocyte" syndrome) have been described [11][12][13][14][15][16][17]. Concordant with studies in mice [3,4], the association between defective HLA antigen expression and combined immunodeficiency suggests immunological significance of HLA antigens in the development of a functional T-cell system [ 15].…”

Section: Introductionmentioning

confidence: 95%

“…We investigated thymic biopsies from two patients with "bare lymphocyte" syndrome [ 12,13,16,17] to evaluate intrathymic T-cell maturation in more detail. In particular, we studied the expression of HLA antigens in various cell populations of the thymus.…”

Section: Introductionmentioning

confidence: 99%

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The thymus in “bare lymphocyte” syndrome: Significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation

et al. 1985

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Section: Patients and Controlsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

See 1 more Smart Citation

The thymus in “bare lymphocyte” syndrome: Significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation

et al. 1985

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“…The critical role of class I molecules in such surveillance by the immune system is emphasized by the increasing number of reports of deficient class I antigen expression on tumor cells. Furthermore, individuals who have a severe form of the "bare lymphocyte" syndrome, which is characterized by deficient class I antigen expression on and die young of infections (37,41). Therefore, knowledge about control of class I antigen expression has considerable basic biological and medical importance.…”

mentioning

confidence: 99%

Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells.

Shimizu¹,

Koller²,

Geraghty³

et al. 1986

Mol. Cell. Biol.

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Three new kinds of recombinant DNA constructs were used to transfer cloned human class I HLA genes (A2 and B8) into unique HLA mutant lymphoblastoid cells: pHeBo(x): a class I gene, "x," in plasmid vector pHeBo, which contains a hygromycin resistance gene and Epstein-Barr virus oriP element that sustains extrachromosomal replication; pHPT(x): gene x in a vector with a hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene; pHPTe(x): gene x in a vector with the HPRT gene and oriP element. Cell surface class I antigen expression was strong in transferents made with class I-deficient lymphoblastoid cell line mutants .144 (A-null), .53 (B-null), and .184 (A-null, B-null). Transferents expressing HLA-A2 were recognized specifically by HLA-A2-specific cytotoxic T lymphocytes. When introduced on either of the vectors with the Epstein-Barr virus oriP element, the class I gene replicated extrachromosomally and was lost at rates of 0.2 to 0.3 per cell division. When introduced with vector pHPT (lacking Epstein-Barr virus oriP), the B8 gene was inserted at different chromosomal locations. Introduction of the HLA-B8 gene failed to restore antigen expression by HLA-B-null mutant .174, providing evidence that, unlike mutants exemplified by .53, .144, and .184, some HLA antigen loss mutants are deficient in a trans-acting function needed for class I antigen expression. Of more general interest, the results obtained with HLA class I genes in vectors that replicate extrachromosomally suggest ways of relating genic expression to chromatin structure and function and of attempting to clone functional human centromeres.

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“…Because the capacity of T lymphocytes to produce or respond to IL-2 may vary, the oligoclonality of the T cells of the patient should be considered as well in the explanation of defective cell proliferation. (3,4). The latter patients have nearly normal numbers of lymphocytes that are functionally deficient because of the absence of MHC products on the cell membrane (5).…”

mentioning

confidence: 99%

Abnormal Signal Transduction in a Patient with Severe Combined Immunodeficiency Disease

et al. 1991

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ABSTRACT. We have studied an &yr-old male patient with adenosine deaminase-positive severe combined immunodeficiency disease with a normal number of peripheral CD3+, T cell receptor-a/3+ T cells. The majority of these T cells expressed the CD8 molecule and were oligoclonal in nature as proven by Southern blot analysis of the T cell receptor genes. T cells failed to proliferate in vitro either upon stimulation with T cell mitogens or when stimulated with a combination of the phorbol ester phorbol myristate acetate and the Ca-ionophore ionomycin. High doses of recombinant IG2, when added to in vitro cultures, were able to restore proliferation induced by phorbol myristate acetate and ionomycin but the response to concanavalin A remained severely defective. However, activation of the patient's T cells with phytohemagglutinin or concanavalin A induced an increase of free cytoplasmic Ca++, which was 2-to 5-fold higher than in normal CD8+

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Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency

Cited by 64 publications

References 22 publications

The thymus in “bare lymphocyte” syndrome: Significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation

The thymus in “bare lymphocyte” syndrome: Significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation

Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells.

Abnormal Signal Transduction in a Patient with Severe Combined Immunodeficiency Disease

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