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

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

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...

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Bibliographic Details
Main Authors: Shiyu Zhang, Jiaxing Song, Yuyan Yang, Huilei Miao, Lu Yang, Yuehua Liu, Xue Zhang, Yaping Liu, Tao Wang
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Aicardi-Goutières syndrome
Compound heterozygote
Familial chilblain lupus
Interferonopathy
Tofacitinib
TREX1
Online Access:https://doi.org/10.1186/s12969-020-00490-1

Internet

https://doi.org/10.1186/s12969-020-00490-1

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