Article
A frequent hypofunctional IRAK2 variant is associated with reduced spontaneous hepatitis C virus clearance.
Hepatology (Baltimore, Md.) - 1 Nov 2015
Wang Hui, El Maadidi Souhayla, Fischer Janett, Grabski Elena, Dickhöfer Sabine, Klimosch Sascha, Flannery Sinead M, Filomena Angela, Wolz Olaf-Oliver, Schneiderhan-Marra Nicole, Löffler Markus W, Wiese Manfred, Pichulik Tica, Müllhaupt Beat, Semela David, Dufour Jean-François, Bochud Pierre-Yves, Bowie Andrew G, Kalinke Ulrich, Berg Thomas, Weber Alexander N R
Abstract excerpt
UNLABELLED: Patients carrying very rare loss-of-function mutations in interleukin-1 receptor-associated kinase 4 (IRAK4), a critical signaling mediator in Toll-like receptor signaling, are severely immunodeficient, highlighting the paramount role of IRAK kinases in innate immunity. We discovered a comparatively frequent coding variant of the enigmatic human IRAK2, L392V (rs3844283), which is found homozygously in...
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