Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Autor: Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made

Publikováno v: eLife, Vol 11 (2022)

Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential added value o

Externí odkaz: https://doaj.org/article/1943927502a7424bb65899a7d0d2b45e

Mature neutrophils and a NF-κB-to-IFN transition determine the unifying disease recovery dynamics in COVID-19

Autor: Amit Frishberg, Emma Kooistra, Melanie Nuesch-Germano, Tal Pecht, Neta Milman, Nico Reusch, Stefanie Warnat-Herresthal, Niklas Bruse, Kristian Händler, Heidi Theis, Michael Kraut, Esther van Rijssen, Bram van Cranenbroek, Hans JPM. Koenen, Hidde Heesakkers, Mark van den Boogaard, Marieke Zegers, Peter Pickkers, Matthias Becker, Anna C. Aschenbrenner, Thomas Ulas, Fabian J. Theis, Shai S. Shen-Orr, Joachim L. Schultze, Matthijs Kox

Publikováno v: Cell Reports Medicine, 3, 6
Cell Rep. Med. 3:100652 (2022)
Cell Reports Medicine, 3
Cell reports 3(6), 100652 (2022). doi:10.1016/j.xcrm.2022.100652

Contains fulltext : 251371.pdf (Publisher’s version ) (Open Access) Disease recovery dynamics are often difficult to assess, as patients display heterogeneous recovery courses. To model recovery dynamics, exemplified by severe COVID-19, we apply a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d2d6eff069ab5cba887274de71a1b00
https://hdl.handle.net/2066/251371