European Journal of Pediatrics

, Volume 149, Issue 10, pp 700–704 | Cite as

Bare lymphocyte syndrome — combined immunodeficiency and neutrophil dysfunction

  • N. Will
  • R. A. Seger
  • C. Betzler
  • G. Dockter
  • N. Graf
  • M. Büttner
  • C. Irlé
  • J. M. Tiercy
  • F. C. Sitzmann


A 4-year-old girl presented with recurrent infections. Immunoglobulin deficiency (serum and secretory IgA, serum IgG3) neutropenia and neutrophil dysfunction (defective spontaneous migration and chemotaxis) were found. T-lymphocyte counts were normal and they responded to phytohaemagglutinin but were not stimulated by Concanavalin A, pokeweed mitogen and microbial antigens in vitro. Delayed cutaneous hypersensitivity testing to purified protein derivative and candidin was negative. Despite bacille Calmette-Guérm vaccination and candidiasis, near normal β-2-microglobulin and human leucocyte antigen (HLA) class I concentrations were detected on mononuclear cells and phytohaemagglutinin-induced lymphoblasts. HLA class II antigens (HLA-DP, −DQ, −DR) were not expressed. These observations indicated a bare lymphocyte syndrome (BLS) type II. This is the first time neutrophil dysfunction has been noted in association with BLS.

Key words

Bare lymphocyte syndrome HLA expression Severe combined immunodeficiency syndrome Neutrophil dysfunction 



Bacille Calmette-Guérm


bare lymphocyte syndrome


bone marrow transplantation


concanavalin A




human leucocyte antigen


monoclonal antibodies




peripheral blood lymphocytes


peripheral blood mononuclear cells




polymorphonuclear leucocytes


purified protein derivative


pokeweed mitogen


restriction fragment length polymorphism


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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • N. Will
    • 1
  • R. A. Seger
    • 2
  • C. Betzler
    • 1
  • G. Dockter
    • 1
  • N. Graf
    • 1
  • M. Büttner
    • 1
  • C. Irlé
    • 3
    • 4
  • J. M. Tiercy
    • 3
  • F. C. Sitzmann
    • 1
  1. 1.Department of PaediatricsUniversity of SaarlandHomburgFederal Republic of Germany
  2. 2.Department of Paediatrics, Division of ImmunologyUniversity of ZürichZürichSwitzerland
  3. 3.Department of Medicine, Division of Immunology, Transplantation Immunology UnitHôpital Cantonal UniversitaireGenevaSwitzerland
  4. 4.Haematology-Oncology Unit and Institute for ImmunologyHôpital de la TourGenevaSwitzerland

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