ArticlePediatric rheumatology online journal2021
Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.
Article in Pediatric rheumatology online journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 31 citations in OpenAlex.
- Iterative genetic testing identifiesJournal of human immunity · 2026Article
- Adenosine deaminase acting on RNA1 mutation in chilblain lupus treated with tofacitinib.JAAD case reports · 2026Article
- Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.Current rheumatology reports · 2025Review
- Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.Orphanet journal of rare diseases · 2025Article
- LASSO-derived nomogram for early identification of pediatric monogenic lupus.World journal of pediatrics : WJP · 2024Article
- Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.Pediatric investigation · 2024Article
- Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.Biomedicines · 2023Article
- Preimplantation genetic testing for Aicardi-Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth.Molecular cytogenetics · 2023Article
- Type I Interferonopathies in Childhood.Balkan medical journal · 2023Article
- Novel heterozygousFrontiers in immunology · 2023Article
- Case report: Durable response to ruxolitinib in a child withFrontiers in pediatrics · 2023Article
- Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.World journal of pediatrics : WJP · 2022Article
- An update on the management of refractory cutaneous lupus erythematosus.Frontiers in medicine · 2022Review
- Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.Frontiers in immunology · 2021Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundType 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.
methodsA 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.
resultsCompound heterozygous variants of TREX1 were observed in the patient's genome. One was a missense variant (NM_016381; c.C227T; p.Ala76Val) from the patient's father, and the other was a frameshift variant (NM_016381; c.458dupA; p.Gln153Glnfs*3) from the patient's mother. One of the proband's elder brothers with similar skin lesions also carried these two variants. This brother of the proband had more serious cutaneous involvement with the comorbidity of cerebral palsy. These TREX1 variants have not been reported in previous studies and are predicted to be highly pathogenic. The proband was given tofacitinib that led to a marked improvement.
conclusionsWe 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.
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