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Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: studies in two unrelated families

  • Immunology/Allergology
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Abstract

Selective homozygous deficiency of the second component of complement, C2, with increased susceptibility to infection was detected in five children of two unrelated families. Because the haemolytic activity of the alternative complement pathway (AP) was in the low normal range, we evaluated the AP activation pattern. Serum levels of factor B measured immunochemically and the haemolytic function of factor B were low normal. Levels of C3d were not increased. Activation products of factor B were undetectable indicating the absence of in vivo activation of AP. Activation of C3 in vitro by activators of the AP (zymosan A and lipopolysaccaride) was profoundly deficient in homozygous C2 deficiency while heterozygous carriers exhibited intermediate values. There was no correlation between serum levels of factor B and in vitro C3 activation. We conclude that defective AP activation may contribute to increased susceptibility to bacterial infections in some patients with homozygous C2 deficiency.

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Abbreviations

AP:

alternative pathway of complement

EA:

erythrocyte bearing antibody

iC3b:

inactivated complement factor C3b

LPS:

lipopolysaccharide

Mg-EGTA:

magnesium and ethyleneglycol-bis-tetraacetic acid

CH50:

total haemolytic complement

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Authors and Affiliations

  1. Institut für Immunologie, Universität Heidelberg, Germany

    R. Schwertz

  2. Universitäts-Kinderklinik, Moorenstrasse 5, D-4000, Düsseldorf, Germany

    E. Esser & V. Wahn

  3. Universitäts-Kinderklinik, Zürich, Switzerland

    R. A. Seger & G. Hauptmann

  4. Albert Einstein College of Medicine, Bronx, New York, USA

    A. Rubinstein

  5. Institut d'Hèmatologie et Centre de Transfusion Sanguine, Strasbourg, France

    A. Rubinstein

Authors
  1. R. Schwertz
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  2. E. Esser
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  3. R. A. Seger
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  4. A. Rubinstein
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  5. G. Hauptmann
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  6. V. Wahn
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Schwertz, R., Esser, E., Seger, R.A. et al. Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: studies in two unrelated families. Eur J Pediatr 150, 647–651 (1991). https://doi.org/10.1007/BF02072626

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  • DOI: https://doi.org/10.1007/BF02072626

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