ArticleAnnals of the rheumatic diseases2020
Global skin gene expression analysis of early diffuse cutaneous systemic sclerosis shows a prominent innate and adaptive inflammatory profile.
Article in Annals of the rheumatic diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers.
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Who cites it
100 citing papers in PubMed.
- Clinical and Molecular Findings After Autologous Stem Cell Transplantation or Cyclophosphamide for Scleroderma: Handling Missing Longitudinal Data.Arthritis care & research · 2023Trial
- Lipodystrophy and adipose tissue recovery are mediated by the Wnt/lipogenesis axis during skin fibrosis.The Journal of pathology · 2026Article
- Novel HLA class I and II insights into the pathogenesis of systemic sclerosis-associated interstitial lung disease.Annals of the rheumatic diseases · 2026Article
- Interleukin-40 in Systemic Sclerosis: A Treatment-Sensitive Marker of Immune Modulation Rather Than Disease Activity.Clinical and translational science · 2026Article
- Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Annals of the rheumatic diseases · 2026Article
- Macrophage Plasticity: Phenotypic and Functional Profiles Across Pathological Microenvironments.International journal of molecular sciences · 2026Review
- Assessment of Skin in Patients With Systemic Sclerosis Using High-Frequency Ultrasound and Shear Wave Elastography: A Comparative Study With Histology, Molecular, and Clinical Parameters.Arthritis care & research · 2026Article
- Association of Type III and Type VI Collagen Neoepitopes With Disease Severity in Systemic Sclerosis.The Journal of rheumatology · 2026Article
- Adipocyte-specific deletion of sine oculis homeobox homolog 1 inhibits lipolysis and reduces skin fibrosis.JCI insight · 2026Article
- Reciprocal regulation of fibroblast-macrophage equilibrium governs skin integrity.Nature immunology · 2026Article
- Case-Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2026Review
- CAR-T cells in systemic sclerosis.Clinical rheumatology · 2026Review
- Anifrolumab-A Potential New Systemic Sclerosis Treatment.Journal of clinical medicine · 2026Review
- Association ofInternational journal of molecular sciences · 2026Article
- The Th17/Treg axis: a key to understanding and treating autoimmune disorders.Open life sciences · 2026Article
- A compact five-gene immuno-fibrotic profile distinguishing systemic sclerosis subtypes with PXDN validated as a fibrosis-associated target.Frontiers in immunology · 2026Article
- The immune landscape of systemic sclerosis: from pathogenic mechanisms to precision therapeutic breakthroughs.Frontiers in immunology · 2026Review
- FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease.Rheumatology (Oxford, England) · 2025Article
- Systemic sclerosis: pathogenic mechanisms and their implications for treatment.Seminars in immunopathology · 2025Review
- Harnessing artificial intelligence to advance insights in systemic sclerosis skin and lung disease.Current opinion in rheumatology · 2025Review
40 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors.
Funding
Abstract
objectivesDetermine global skin transcriptome patterns of early diffuse systemic sclerosis (SSc) and how they differ from later disease.
methodsSkin biopsy RNA from 48 patients in the Prospective Registry for Early Systemic Sclerosis (PRESS) cohort (mean disease duration 1.3 years) and 33 matched healthy controls was examined by next-generation RNA sequencing. Data were analysed for cell type-specific signatures and compared with similarly obtained data from 55 previously biopsied patients in Genetics versus Environment in Scleroderma Outcomes Study cohort with longer disease duration (mean 7.4 years) and their matched controls. Correlations with histological features and clinical course were also evaluated.
resultsSSc patients in PRESS had a high prevalence of M2 (96%) and M1 (94%) macrophage and CD8 T cell (65%), CD4 T cell (60%) and B cell (69%) signatures. Immunohistochemical staining of immune cell markers correlated with the gene expression-based immune cell signatures. The prevalence of immune cell signatures in early diffuse SSc patients was higher than in patients with longer disease duration. In the multivariable model, adaptive immune cell signatures were significantly associated with shorter disease duration, while fibroblast and macrophage cell type signatures were associated with higher modified Rodnan Skin Score (mRSS). Immune cell signatures also correlated with skin thickness progression rate prior to biopsy, but did not predict subsequent mRSS progression.
conclusionsSkin in early diffuse SSc has prominent innate and adaptive immune cell signatures. As a prominently affected end organ, these signatures reflect the preceding rate of disease progression. These findings could have implications in understanding SSc pathogenesis and clinical trial design.
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