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Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib by Shiyu Zhang; Jiaxing Song; Yuyan Yang; Huilei Miao; Lu Yang; Yuehua Liu; Xue Zhang; Yaping Liu; Tao Wang is a Medicine article available to read on EtoBox.
What is Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib about?
## Abstract ## Background Type I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to disturbances in immune function. Three prime repair exonuclease 1 (TREX1) is an important exonuclease and plays an important role in DNA damage repair. TREX1 mutations are associated with many type I interferonopathies. Studies have been published on the effectiveness of tofacitinib in the treatment of type I interferonopathies. The aim of this study is to identify the pathogenic variation in a Chinese family with type I interferonopathies and to observe the therapeutic effects of tofacitinib. ## Methods A Chinese family with two members with type I interferonopathies was investigated. Whole exome sequencing and Sanger sequencing were applied for mutation screening using peripheral blood DNA of the patient and her family members. Sequencing results were analysed using bioinformatics software tools including VarCards and PolyPhen-2. Close clinical follow-up and observation were used to record changes in the disease before and after treatment with tofacitinib. ## Results Compound heterozygous variants of TREX1 were observ
Who reads Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Shiyu Zhang; Jiaxing Song; Yuyan Yang; Huilei Miao; Lu Yang; Yuehua Liu; Xue Zhang; Yaping Liu; Tao Wang
- Publisher
- Springer Science and Business Media LLC
- Published
- 2021
- Language
- EN
- Field
- Medicine (Health Sciences)