Principles of the diagnostics of inborn errors of immunity
© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature..
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.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2023 |
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Erschienen: |
2023 |
Enthalten in: |
Zur Gesamtaufnahme - volume:82 |
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Enthalten in: |
Zeitschrift fur Rheumatologie - 82(2023), 4 vom: 20. Mai, Seite 285-297 |
Sprache: |
Deutsch |
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Weiterer Titel: |
Grundlagen der Diagnostik primärer Immunstörungen („inborn errors of immunity“) |
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Beteiligte Personen: |
Geier, Christoph B [VerfasserIn] |
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Links: |
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Themen: |
English Abstract |
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Anmerkungen: |
Date Completed 08.05.2023 Date Revised 08.05.2023 published: Print-Electronic Citation Status MEDLINE |
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doi: |
10.1007/s00393-023-01351-4 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM355828332 |
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520 | |a 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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