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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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Abstract

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.

Keywords

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

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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

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Abbreviations

AG:

agammaglobulinemia

ID:

immunodeficiency

BLS:

bare lymphocyte syndrome

IF:

immunofluorescence

FCM:

flow cytometry

MAb:

monoclonal antibody

IH:

immunohistology

Ig:

immunoglobulin

IFN:

interferon

FITC:

fluorescein

TR:

Texas red

PWM:

pokeweed mitogen

CBL:

cord blood lymphocytes

LC:

Langerhans’ cell

BC:

endothelial cell

BLCL:

B-lymphoblastoid cell line

PBMC:

peripheral blood mononuclear cells.

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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. https://doi.org/10.1007/978-3-642-69770-8_248

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  • DOI: https://doi.org/10.1007/978-3-642-69770-8_248

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