Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study
Author:
Funder
Bilimsel Ara?tirma Projeleri Birimi, Istanbul ?niversitesi
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy,Rheumatology
Link
http://link.springer.com/article/10.1007/s00296-019-04252-5/fulltext.html
Reference24 articles.
1. Ozkurede VU, Franchi L (2012) Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol 167(3):382–390. https://doi.org/10.1111/j.1365-2249.2011.04535.x
2. Kastner DL, Aksentijevich I, Goldbach-Mansky R (2010) Autoinflammatory disease reloaded: a clinical perspective. Cell 140(6):784–790. https://doi.org/10.1016/j.cell.2010.03.002
3. Dickie LJ, Savic S, Aziz A, Sprakes M, McDermott MF (2010) Periodic fever syndrome and autoinflammatory diseases. F1000 Med Rep 2. https://doi.org/10.3410/M2-3
4. Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 24(3):194–198. https://doi.org/10.1002/humu.20080
5. Russo RA, Brogan PA (2014) Monogenic autoinflammatory diseases. Rheumatology 53(11):1927–1939. https://doi.org/10.1093/rheumatology/keu170
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