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Defective Expression of HLA-D-Region Determinants in Children with Congenital Agammaglobulinemia and Malabsorption: A New Syndrome

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Recently we have described four children with congenital AG associated with persistent diarrhea, malabsorption, and failure to thrive [5, 6]. All patients displayed a lack of expression of HLA-DR and DQ antigens, whereas HLA-ABC antigens were consistently found. In contrast to our patients, Touraine et al. [17] have described a combined ID termed “bare lymphocyte syndrome” (BLS), characterized by a lack of class I antigens and a continued expression of class II antigens. Subsequently, cases of BLS were describe with defects in both class I and class II antigens were quantitated on single cells by indirect IF and FCM, using well-defined MAbs. In addition, skin biopsy specimes were examined for cells bearing HLA antigens by IH. As a functional parameter, Ig production was assessed in vitro. Finally, attempts are reported to modulate class II determinants by IFN treatment in vitro.


  • Peripheral Blood Mononuclear Cell
  • Primary Immunodeficiency Disease
  • Persistent Diarrhea
  • Bare Lymphocyte Syndrome
  • Cord Blood Lymphocyte

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Supported by the Deutsche Forschungsgemeinschaft (SFB 120: A3, B3, Fl; SFB54: G13) and the Robert Bosch Foundation

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  • DOI: 10.1007/978-3-642-69770-8_248
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bare lymphocyte syndrome




flow cytometry


monoclonal antibody










Texas red


pokeweed mitogen


cord blood lymphocytes


Langerhans’ cell


endothelial cell


B-lymphoblastoid cell line


peripheral blood mononuclear cells.


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© 1984 Springer-Verlag Berlin Heidelberg

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Hadam, M.R. et al. (1984). Defective Expression of HLA-D-Region Determinants in Children with Congenital Agammaglobulinemia and Malabsorption: A New Syndrome. In: , et al. Histocompatibility Testing 1984. Springer, Berlin, Heidelberg.

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