Universität zu Köln

Horneff, Gerd, Schutz, Catharina and Rosen-Wolff, Angela (2021). Autoinflammation-A clinical and genetic challenge. Z. Rheumatol., 80 (10). S. 953 - 966. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1435-1250

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Abstract

In the last two decades clinical rheumatological practice has been confronted with a steadily increasing number of autoinflammatory diseases, the immunological pathomechanisms of which have been elucidated and in part can be clinically well classified. Whereas targeted genetic diagnostics previously served to confirm a clinically suspected diagnosis, genetic sequencing technology has much improved and enables a new diagnostic approach via high-throughput sequencing, e.g., panel sequencing, whole exome and whole genome sequencing. Thus, the decision to make a diagnosis clinically and/or genetically, has become a daily challenge. This article contrasts the clinical, immunological and genetic aspects of autoinflammatory diseases.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Horneff, Gerd UNSPECIFIED UNSPECIFIED UNSPECIFIED Schutz, Catharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosen-Wolff, Angela UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-579332
DOI:	10.1007/s00393-021-01076-2
Journal or Publication Title:	Z. Rheumatol.
Volume:	80
Number:	10
Page Range:	S. 953 - 966
Date:	2021
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1435-1250
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FAMILIAL MEDITERRANEAN FEVER; NEUTROPHILIC DERMATOSIS; PROTEASOME SUBUNIT; MUTATION; DEFICIENCY; DISEASE; LIPODYSTROPHY; ACTIVATION; ANEMIA; PYRIN Multiple languages Rheumatology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/57933