ArticlePediatric rheumatology online journal2020
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.
Article in Pediatric rheumatology online journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 20 citations in OpenAlex.
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- Chronic and non-canonical cGAS-STING activation: implications for health, disease, cancer, and emerging therapeutic opportunities.Apoptosis : an international journal on programmed cell death · 2026Review
- cGAS-STING pathway in innate immunity and its cell-specific role in kidney diseases.Frontiers in immunology · 2026Review
- PRRs-Dependent and Independent Mechanisms of STING Signaling in Inflammatory and Autoimmune Diseases.Biomedicines · 2025Review
- [Lupus erythematosus].Dermatologie (Heidelberg, Germany) · 2025Review
- Clinical Trials of Interferon Inhibitors in Systemic Lupus Erythematosus and Preliminary Real-World Efficacy of Anifrolumab.Mediterranean journal of rheumatology · 2024Article
- The Spectrum of Cutaneous Manifestations in Lupus Erythematosus: A Comprehensive Review.Journal of clinical medicine · 2024Review
- TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity.Clinical and experimental immunology · 2023Article
- Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.Arthritis & rheumatology (Hoboken, N.J.) · 2022Review
- Many Achilles' heels of B and T cell tolerance.Immunological reviews · 2022Article
- Nucleic Acid Sensing in the Tumor Vasculature.Cancers · 2021Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families have been described in the literature. CASE PRESENTATION: Genetic study was performed in a large, nonconsanguineous Chinese family with 13 members over 4 generations affected by chilblain lupus. Whole exome sequencing was performed for the index patient. Significant variant detection was subsequently validated by resequencing using Sanger sequencing in the index patient and other family members. A novel pathogenic mutation TREX1 p.Asp18His was iditified in the index patient. The mutation was present in affected individuals and was absent in non-affected individuals in the familiy.
conclusionsWe present a four-generation Chinese family with FCL caused by a novel heterozygous mutation TREX1 p.Asp18His, which had been reported in a patient with Aicardi-Goutie'res syndrome. This is the first reported Chinese family with FCL based on mutation in TREX1.
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