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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
Immunology/Allergology

Abstract

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 

Abbreviations

BCG

Bacille Calmette-Guérm

BLS

bare lymphocyte syndrome

BMT

bone marrow transplantation

Con-A

concanavalin A

CMV

cytomegalovirus

HLA

human leucocyte antigen

MAb

monoclonal antibodies

MN

monocytes

PBL

peripheral blood lymphocytes

PBMC

peripheral blood mononuclear cells

PHA

phytohaemagglutinin

PMN

polymorphonuclear leucocytes

PPD

purified protein derivative

PWM

pokeweed mitogen

RFLP

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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