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. 2020 Sep 29;11:575219. doi: 10.3389/fimmu.2020.575219

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Copyright © 2020 Staels, Betrains, Doubel, Willemsen, Cleemput, Vanderschueren, Corveleyn, Meyts, Sprangers, Crow, Humblet-Baron, Liston and Schrijvers.

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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Clinical and genetic synopsis of 56 SAVI patients. (A) Schematic representation of potential clinical presentations (B) Schematic representation of the STING protein, consisting of 4 transmembrane domains (TM1-4, blue), dimerization domain (DD, green), cGAMP binding domain (CBD, black bar) and C-terminal tail domain (CTT, orange). Gain-of-function mutations are indicated in black with number of cases reported underneath (C) Age of onset, n = 52 reported (D) Number of associated features, n = 56 reported (E) Mortality in SAVI patients, n = 56 reported.