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. 2021 Apr 28;9:634281. doi: 10.3389/fped.2021.634281

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Copyright © 2021 Wu, Fang, Huang and Ying.

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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Novel TREX1 mutations and elevated type I IFN were found in the patient. New mutations of c.137 (exon2)_c.138 (exon2) insC (A) and c.292 (exon2)_c.293 (exon2) insA (B) in TREX1 gene of the patient were detected by Trio-based whole-exome sequencing. (C) Increased IFN-α and IFN-β levels in the sera of the patient were detected by ELISA. Statistically significant differences are expressed as ***P < 0.001.