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

Shiyu ZhangJiaxing SongYuyan YangHuilei MiaoLu YangYuehua LiuXue ZhangYaping LiuWang Tao

Published in: Pediatric rheumatology online journal (2021)

We identified two novel complex heterozygous variants in the TREX1 gene, which may underlie the molecular pathogenesis of the type I interferonopathies observed in members of this family. Tofacitinib could be an alternative treatment for this disease.

Keyphrases

rheumatoid arthritis
copy number
early onset
ulcerative colitis
genome wide
intellectual disability