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Bare lymphocyte syndrome — combined immunodeficiency and neutrophil dysfunction

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.

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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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Correspondence to N. Will.

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Will, N., Seger, R.A., Betzler, C. et al. Bare lymphocyte syndrome — combined immunodeficiency and neutrophil dysfunction. Eur J Pediatr 149, 700–704 (1990). https://doi.org/10.1007/BF01959526

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Key words

  • Bare lymphocyte syndrome
  • HLA expression
  • Severe combined immunodeficiency syndrome
  • Neutrophil dysfunction