| |  Online-Ressource |
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| Verfasst von: | Sighart, Regina [VerfasserIn]  |
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| | Blank, Norbert [VerfasserIn] |
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| | Löhrer, Sabina [VerfasserIn] |
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| | Reis, André [VerfasserIn] |
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| | Hüffmeier, Ulrike [VerfasserIn] |
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| Titel: | Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes |
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| Verf.angabe: | R. Sighart, J. Rech, A. Hueber, N. Blank, S. Löhr, A. Reis, H. Sticht, U. Hüffmeier |
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| Jahr des Originals: | 2017 |
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| Umfang: | 10 S. |
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| Fussnoten: | Published online: 20 November 2017 |
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| Titel Quelle: | Enthalten in: Rheumatology international |
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| Jahr Quelle: | 2018 |
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| Band/Heft Quelle: | 38(2018), 1, S. 111-120 |
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| ISSN Quelle: | 1437-160X |
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| Abstract: | ObjectiveAdult onset Still’s disease (AOSD) is a severe, autoimmune disease that can be challenging to treat with conventional therapeutics and biologicals in a considerable number of cases. Therefore, there is a high need to understand its pathogenesis better. As major clinical symptoms overlap between AOSD and hereditary periodic fever syndromes (HPFS), we analysed four known HPFS genes in AOSD.MethodsWe performed Sanger sequencing and quantitative analysis of all coding regions of MEFV, TNFRSF1A, MVK and NLRP3 in 40 AOSD patients. All rare coding variants (n = 6) were evaluated for several aspects to classify them as benign to pathogenic variants. Statistical analysis was performed to analyse whether variants classified as (likely) pathogenic were associated with AOSD.ResultsWe identified three rare variants in MEFV, one previously not described. Association to the three likely pathogenic MEFV variants was significant (p c = 2.34E− 03), and two of the three carriers had a severe course of disease. We observed strong evidence for significant association to mutations in TNFRSF1A (p c = 2.40E− 04), as 5% of patients (2/40) carried a (likely) pathogenic variant in this gene. Both of them received a biological for treatment.ConclusionOur results indicate TNFRSF1A as a relevant gene in AOSD, especially in patients with a more challenging course of disease, while causal variants remain to be identified in the majority of patients. |
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| DOI: | doi:10.1007/s00296-017-3885-0 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Verlag: http://dx.doi.org/10.1007/s00296-017-3885-0 |
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| | Verlag: https://link.springer.com/article/10.1007/s00296-017-3885-0 |
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| | DOI: https://doi.org/10.1007/s00296-017-3885-0 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1574133780 |
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| Verknüpfungen: | → Zeitschrift |
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Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes / Sighart, Regina [VerfasserIn] (Online-Ressource)
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