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. 2019 Dec 5;10:2770. doi: 10.3389/fimmu.2019.02770

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Copyright © 2019 Keskitalo, Haapaniemi, Einarsdottir, Rajamäki, Heikkilä, Ilander, Pöyhönen, Morgunova, Hokynar, Lagström, Kivirikko, Mustjoki, Eklund, Saarela, Kere, Seppänen, Ranki, Hannula-Jouppi and Varjosalo.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Gene expression analysis of patient PBMCs reveals alterations in IFN-regulated genes and multiple signaling pathways. (A) Heat map of baseline gene expression of a custom Nanostring gene set in PBMCs of four G207E patients, a Singleton-Merten syndrome patient (SMS-pat; another type I interferon-mediated disease), and three healthy controls. After background thresholding and normalization, agglomerative clustering was performed on z-scores of genes. IFN-regulated genes are marked in red. (B) mRNA fold changes of seven IFN-regulated genes (IFIT1, ISG15, RSAD2, SICLEC1, IFI27, IFI44, and IFI44L) and the resulting IFN score for each patient. (C–E) Fold changes in unstimulated patient PBMCs of inflammasome (C), JAK/STAT pathway (D), and NFκB pathway (E) related genes. Fold change 1 and 4 are indicated with green and blue dotted lines, respectively. Through (A–E) mean of three measurements together with SD is presented.