ArticleJournal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases2013
Tuberous sclerosis and fulminant lupus in a young woman.
Article in Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Review
- How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.ACR open rheumatology · 2025Review
- Rab4A-directed endosome traffic shapes pro-inflammatory mitochondrial metabolism in T cells via mitophagy, CD98 expression, and kynurenine-sensitive mTOR activation.Nature communications · 2024Article
- A cellular overview of immunometabolism in systemic lupus erythematosus.Oxford open immunology · 2023Review
- Dysregulation of immunity in COVID-19 and SLE.Inflammopharmacology · 2022Review
- Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report.Medicine · 2022Article
- Cell type-specific mechanistic target of rapamycin-dependent distortion of autophagy pathways in lupus nephritis.Translational research : the journal of laboratory and clinical medicine · 2022Review
- mTOR-Related Cell-Clearing Systems in Epileptic Seizures, an Update.International journal of molecular sciences · 2020Review
- T cell metabolism: new insights in systemic lupus erythematosus pathogenesis and therapy.Nature reviews. Rheumatology · 2020Review
- Lupus-associated endogenous retroviral LTR polymorphism and epigenetic imprinting promote HRES-1/RAB4 expression and mTOR activation.JCI insight · 2020Article
- Metabolic Targets for Treatment of Autoimmune Diseases.Immunometabolism · 2020Article
- T cell Metabolism in Lupus.Immunometabolism · 2020Article
- Recent developments in systemic lupus erythematosus pathogenesis and applications for therapy.Current opinion in rheumatology · 2018Review
- Aberrant T Cell Signaling and Subsets in Systemic Lupus Erythematosus.Frontiers in immunology · 2018Review
- Tsc1 expression by dendritic cells is required to preserve T-cell homeostasis and response.Cell death & disease · 2017Article
- Activation of the Mechanistic Target of Rapamycin in SLE: Explosion of Evidence in the Last Five Years.Current rheumatology reports · 2016Review
- Activation of mTOR (mechanistic target of rapamycin) in rheumatic diseases.Nature reviews. Rheumatology · 2016Review
- A case of systemic lupus erythematosus with multiple nodules in the bilateral lungs and vertebrae.European journal of rheumatology · 2016Article
- mTOR activation is a biomarker and a central pathway to autoimmune disorders, cancer, obesity, and aging.Annals of the New York Academy of Sciences · 2015Review
- Neuromyelitis Optica in a Young Woman With Tuberous Sclerosis: Is There an Association?Journal of investigative medicine high impact case reportsArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Tuberous sclerosis is an autosomal dominant disorder characterized by involvement of skin, nervous system, kidneys, and lungs. It results from mutations in 1 of 2 genes: TSC1 (encoding hamartin) or TSC2 (encoding tuberin), leading to dysregulation and activation of the mammalian target of rapamycin (mTOR) pathway. Constitutive activation of mTOR signaling has recently been reported in systemic lupus erythematosus (SLE), and inhibition of this pathway may benefit patients with SLE nephritis. We report a case of a young woman with tuberous sclerosis who developed fulminant SLE, with lower extremity edema, massive proteinuria, and class IV lupus glomerulonephritis. She died despite treatment with high-dose steroids, plasmapheresis, and cyclophosphamide. Although there are no prior reports of coexistence of these 2 rare diseases, this case is of considerable interest because of the possibility that activation of mTOR by the TSC mutations may have led to activation of the immune system and the development of unusually severe SLE.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.