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. 2021 May 13;12:660953. doi: 10.3389/fgene.2021.660953

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Copyright © 2021 Xiao, Feng, Long, Xiao and Luo.

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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Molecular findings. (A) Family tree. (B) A de novo IFIH1 mutation c.1465G > T (p.Ala489Ser) confirmed by Sanger sequencing. (C) Quantitative analysis of interferon-stimulated genes. The expression of interferon-stimulated genes (IFI27, IFIT1, IFI44L, ISG15, SIGLEC1, and RSAD2) was analyzed by quantitative PCR. The relative expression of each interferon-stimulated gene in PBMCs (peripheral blood mononuclear cells) isolated from the patient was normalized to controls and represented as a mean and standard deviation. Control PBMCs were donated from a healthy individual who had been age- and gender-matched. All experiments were carried out in triplicate.