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

• Päätekijät: Shiyu Zhang (Tekijä), Jiaxing Song (Tekijä), Yuyan Yang (Tekijä), Huilei Miao (Tekijä), Lu Yang (Tekijä), Yuehua Liu (Tekijä), Xue Zhang (Tekijä), Yaping Liu (Tekijä), Tao Wang (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2021-01-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...