| Literature DB >> 35286425 |
Gerd Horneff1,2, Catharina Schütz3, Angela Rösen-Wolff3.
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.Entities:
Keywords: High-throughput sequencing; Next-generation sequencing; Panel sequencing; Whole exome sequencing; Whole genome sequencing
Mesh:
Year: 2022 PMID: 35286425 DOI: 10.1007/s00105-022-04970-1
Source DB: PubMed Journal: Hautarzt ISSN: 0017-8470 Impact factor: 0.751