Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib

• Main Authors: Shiyu Zhang (Author), Jiaxing Song (Author), Yuyan Yang (Author), Huilei Miao (Author), Lu Yang (Author), Yuehua Liu (Author), Xue Zhang (Author), Yaping Liu (Author), Tao Wang (Author)
• Format: Book
• Published: BMC, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 dama...