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Arthritis und Rheuma 2018; 38(02): 125-131
DOI: 10.1055/s-0038-1649292
Kinderrheumatologie
Schattauer GmbH

Systemisch inflammatorische Erkrankungen als Differenzialdiagnose in der Neugeborenenperiode – Inflammasom-vermittelte Erkrankungen

Systemic inflammatory diseases as differential diagnosis in new born period Inflammasom-related diseases
C. M. Hedrich
1   Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Deutschland
2   Institute of Translational Medicine, Department of Women’s and Children’s Health, University of Liverpool, Liverpool, United Kingdom
3   Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust Hospital, Liverpool, United Kingdom
,
S. R. Hofmann
1   Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Deutschland
,
N. Bruck
1   Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Deutschland
,
G. Hahn
4   Institut und Poliklinik für Radiologische Diagnostik, Bereich Kinderradiologie, Universitätsklinikum Carl Gustav Carus, TU Dresden, Deutschland
,
A. Rösen-Wolff
1   Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, TU Dresden, Deutschland
› Author Affiliations
Further Information

Publication History

Publication Date:
27 April 2018 (online)

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Zusammenfassung

Autoinflammatorische Erkrankungen sind durch systemische oder organbezogene Entzündung gekennzeichnet, welche zumindest initial von fehlregulierten Mechanismen des angeborenen Immunsystems ausgehen. Einige monogene autoinflammatorische Erkrankungen manifestieren in der Perinatalperiode, sodass sie Differenzialdiagnosen zu Infektionen des Neugeborenen darstellen. Im vorliegenden Artikel werden Einblicke in die klinische Präsentation und die molekulare Pathophysiologie Inflammasom-vermittelter monogener Erkrankungen mit Manifestation im Neugeborenenalter gegeben.

Summary

Autoinflammatory conditions are characterized by systemic or organ specific inflammation which is at least initially caused by dysregulation of innate immune mechanisms. Several monogenic autoinflammatory conditions manifest in the perinatal period which makes them differential diagnoses to infections of the newborn. Here, an overview of the clinical presentation and molecular pathophysiology of inflammasome-associated monogenic disorders with manifestation in the newborn period will be given.

Schlüsselwörter

Autoinflammation - Diagnose - Inflammation - Inflammasom - NLRP3 - NLRC4 - CNO - Majeed - DIRA - Biomarker - Therapie

Keywords

Autoinflammation - diagnosis - inflammation - inflammasome - NLRP3 - NLRC4 - CNO - Majeed - DIRA - biomarker - therapy
 

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