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Hereditäre Fiebersyndrome

Hereditary fever syndromes

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medizinische genetik

Zusammenfassung

Das familiäre Mittelmeerfieber (FMF), Hyper-IgD-Syndrom (HIDS) und das Tumornekrosefaktor(TNF)-Rezeptor-1-assoziierte periodische Syndrom (TRAPS) sind monogene Krankheiten, die unter dem Begriff der hereditären Fiebersyndrome zusammengefasst werden. Sie sind durch rezidivierende Episoden mit Fieber und Entzündungszeichen gekennzeichnet und werden von Mutationen in Genen verursacht, denen eine Funktion bei der angeborenen Immunität zukommt. Die vorliegende Übersichtsarbeit befasst sich mit dem klinischen Erscheinungsbild und der Genetik der hereditären Fiebersyndrome. Sie sind für die humangenetische Beratung von Bedeutung.

Abstract

Familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), and tumour necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) are monogenic disorders included under the term“hereditary fever syndromes”. These diseases are characterized by recurrent episodes of fever and inflammation and arise from mutations of genes regulating the innate immune system. The present review describes the clinical and genetic spectrum of hereditary fever syndromes, which are of importance for genetic counseling.

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Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Deutschland

    J. Schumacher

  2. Abteilung Molekulare Medizin, Bernhard-Nocht-Institut für Tropenmedizin, Bernhard-Nocht-Str. 74, 20359, Hamburg, Deutschland

    C. Timmann

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  1. J. Schumacher
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  2. C. Timmann
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Correspondence to J. Schumacher.

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Schumacher, J., Timmann, C. Hereditäre Fiebersyndrome. medgen 24, 211–222 (2012). https://doi.org/10.1007/s11825-012-0335-y

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  • DOI: https://doi.org/10.1007/s11825-012-0335-y

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