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

Erscheinungsjahr:

2023

Erschienen:

2023

Enthalten in:

Zur Gesamtaufnahme - volume:82

Enthalten in:

Zeitschrift fur Rheumatologie - 82(2023), 4 vom: 20. Mai, Seite 285-297

Sprache:

Deutsch

Weiterer Titel:

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

Beteiligte Personen:

Geier, Christoph B [VerfasserIn]
Voll, Reinhard E [VerfasserIn]
Warnatz, Klaus [VerfasserIn]

Links:

Volltext

Themen:

English Abstract
Flow cytometry
Immunodeficiency
Infection susceptibility
Journal Article
Rare diseases
Review
Rheumatology

Anmerkungen:

Date Completed 08.05.2023

Date Revised 08.05.2023

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1007/s00393-023-01351-4

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM355828332