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Inherited high serum levels of a functionally deficient complement esterase inhibitor associated with Hereditary Angioedema

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Summary

A family in which several members in 3 generations are afflicted with Hereditary Angioedema (HAE) is described. In contrast to the more common form of HAE, the concentration of complement esterase inhibitor (C1INH) as determined immunologically is greatly elevated in the serum of these patients, while the inhibiting activity is low or absent. The experimental evidence suggests that in their serum C1INH protein is complexed with albumin.

Zusammenjassung

Eine Familie, in der mehrere Mitglieder in 3 Generationen an Hereditärem Angioödem (HAE) leiden, wird beschrieben. Im Gegensatz zur häufigeren Form von HAE ist jedoch die Serumkonzentration des Komplementesterasehemmers (C1INH) nach immunologischen Kriterien erheblich erhöht. Die Hemmung von Komplementesterase ist stark vermindert oder fehlt. Die experimentellen Daten zeigen, daß bei den Patienten C1INH-Protein als Komplex mit Serumalbumin vorliegt.

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Author notes

  1. F. Kueppers

    Present address: Universitäts-Hautklinik, 2, Martinistraße 52, Hamburg 20

Authors and Affiliations

  1. Institut für Humangenetik, University of Hamburg, Germany

    F. Kueppers, U. Berendes & E. Schöpf

  2. Universitäts-Hautklinik, Heidelberg, Germany

    F. Kueppers, U. Berendes & E. Schöpf

Authors
  1. F. Kueppers
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  2. U. Berendes
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  3. E. Schöpf
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Kueppers, F., Berendes, U. & Schöpf, E. Inherited high serum levels of a functionally deficient complement esterase inhibitor associated with Hereditary Angioedema. Hum Genet 15, 119–125 (1972). https://doi.org/10.1007/BF00295738

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  • DOI: https://doi.org/10.1007/BF00295738

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