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Grundlagen der Diagnostik primärer Immunstörungen („inborn errors of immunity“)

Principles of the diagnostics of inborn errors of immunity

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Zusammenfassung

Primäre Immunstörungen (engl. „inborn errors of immunity“ [IEI]) sind eine heterogene Gruppe von knapp 500 Erkrankungen, die durch eine angeborene Fehlfunktion des Immunsystems charakterisiert sind. Die große Mehrzahl der IEIs zählt zu den seltenen Erkrankungen, jedoch haben alle IEIs gemeinsam eine kumulative Prävalenz von 1:1200 bis 1:2000. Neben einer pathologischen Infektionsanfälligkeit können sich IEIs auch durch Lymphoproliferation, autoimmune oder autoinflammatorische Manifestationen präsentieren. Hier besteht oft eine Überlappung mit klassischen rheumatischen und inflammatorischen Krankheitsbildern. Daher ist eine Grundkenntnis der Krankheitsbilder und Diagnostik von IEIs auch für den praktisch tätigen Rheumatologen relevant.

Abstract

Inborn errors of immunity (IEI) are a heterogeneous group of nearly 500 diseases characterized by a congenital dysfunction of the immune system. The vast majority of IEIs are rare diseases but all IEIs share a cumulative prevalence of 1:1200–1:2000. In addition to a pathological susceptibility to infections, IEIs can also present with lymphoproliferative, autoimmune or autoinflammatory manifestations. There is often an overlap with classical rheumatic and inflammatory disease patterns. Therefore, a basic knowledge of the clinical presentation and the diagnostics of IEIs is also relevant for the practicing rheumatologist.

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Authors and Affiliations

  1. Klinik für Rheumatologie und Klinische Immunologie, Medizinische Universitätsklinik – Medizinische Fakultät, Universität Freiburg, Freiburg, Deutschland

    Christoph B. Geier, Reinhard E. Voll & Klaus Warnatz

  2. Centrum für Chronische Immundefizienz (CCI), Medizinische Universitätsklinik – Medizinische Fakultät, Universität Freiburg, Freiburg, Deutschland

    Christoph B. Geier, Reinhard E. Voll & Klaus Warnatz

  3. Klinik für Klinische Immunologie, Universitätsspital Zürich, Zürich, Schweiz

    Klaus Warnatz

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  1. Christoph B. Geier
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Correspondence to Klaus Warnatz.

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Geier, C.B., Voll, R.E. & Warnatz, K. Grundlagen der Diagnostik primärer Immunstörungen („inborn errors of immunity“). Z Rheumatol 82, 285–297 (2023). https://doi.org/10.1007/s00393-023-01351-4

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