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Article
Open AccessThymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis
Myasthenia gravis (MG) is an immune-mediated disease frequently associated with thymic changes. Increased T helper 17 (Th17) cell activity and dysfunctional regulatory T (Treg) cells have been demonstrated in ...
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Article
Open AccessAuthor Correction: Fibroblast A20 governs fibrosis susceptibility and its repression by DREAM promotes fibrosis in multiple organs
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Article
Open AccessCentromere defects, chromosome instability, and cGAS-STING activation in systemic sclerosis
Centromere defects in Systemic Sclerosis (SSc) have remained unexplored despite the fact that many centromere proteins were discovered in patients with SSc. Here we report that lesion skin fibroblasts from SSc...
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Article
Open AccessFibroblast A20 governs fibrosis susceptibility and its repression by DREAM promotes fibrosis in multiple organs
In addition to autoimmune and inflammatory diseases, variants of the TNFAIP3 gene encoding the ubiquitin-editing enzyme A20 are also associated with fibrosis in systemic sclerosis (SSc). However, it remains un...
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Article
Open AccessThe lupus susceptibility allele DRB1*03:01 encodes a disease-driving epitope
The HLA-DRB1*03:01 allele is a major genetic risk factor in systemic lupus erythematosus (SLE), but the mechanistic basis of the association is unclear. Here we show that in the presence of interferon gamma (IFN-...
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Article
Clinical Treatment Options in Scleroderma: Recommendations and Comprehensive Review
There are two major clinical subsets of scleroderma: (i) systemic sclerosis (SSc) is a complex systemic autoimmune disorder characterized by inflammation, vasculopathy, and excessive fibrosis of the skin and m...
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Article
Open AccessPost-GWAS functional analysis identifies CUX1 as a regulator of p16INK4a and cellular senescence
Accumulation of senescent cells with age is an important driver of aging and age-related diseases. However, the mechanisms and signaling pathways that regulate senescence remain elusive. In this report, we per...
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Article
BCL-6 and EZH2 cooperate to epigenetically repress anti-inflammatory miR-142-3p/5p in lupus CD4+T cells
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Article
Open AccessHLA-DRB1 allelic epitopes that associate with autoimmune disease risk or protection activate reciprocal macrophage polarization
Associations between particular human leukocyte antigen (HLA) alleles and susceptibility to—or protection from—autoimmune diseases have been long observed. Allele-specific antigen presentation (AP) has been wi...
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Article
SARS-CoV-2 and Systemic Lupus Erythematosus
To summarize current knowledge of the impact of coronavirus disease 19 (COVID-19) on patients with systemic lupus erythematosus (SLE).
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Article
Clinical value of DNA methylation markers in autoimmune rheumatic diseases
Methylation of cytosine residues in DNA, the best studied epigenetic modification, is associated with gene transcription and nuclear organization, and ultimately the function of a cell. DNA methylation can be ...
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Article
Genetic variability in the expression of the SARS-CoV-2 host cell entry factors across populations
The entry of SARS-CoV-2 into host cells is dependent upon angiotensin-converting enzyme 2 (ACE2), which serves as a functional attachment receptor for the viral spike glycoprotein, and the serine protease TMPR...
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Article
Genetics of Antiphospholipid Syndrome
Antiphospholipid syndrome (APS) is a rare heterogenous disorder associated with the presence of antiphospholipid antibodies and can present in a wide variety of clinical manifestations including thrombosis and...
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Article
Open AccessStructural variation of centromeric endogenous retroviruses in human populations and their impact on cutaneous T-cell lymphoma, Sézary syndrome, and HIV infection
Human Endogenous Retroviruses type K HML-2 (HK2) are integrated into 117 or more areas of human chromosomal arms while two newly discovered HK2 proviruses, K111 and K222, spread extensively in pericentromeric ...
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Takayasu Arteritis
Takayasu arteritis is a rare large-vessel vasculitis that primarily affects young women. Initial evidence for a genetic component to this disease includes a preponderance of risk in East Asian, South Asian, an...
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Chapter
Autoimmune Myasthenia Gravis
Being the main autoimmune disease of the neuromuscular junction, myasthenia gravis (MG) is among the rare diseases. With the defined autoantigens and relatively well understood pathogenesis, the disease is het...
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Article
Epigenetic Variability in Systemic Lupus Erythematosus: What We Learned from Genome-Wide DNA Methylation Studies
DNA methylation has emerged as an important contributing factor in the pathogenesis of systemic lupus erythematosus (SLE). Here, we describe the DNA methylation patterns identified in SLE and how these epigene...
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Article
Open AccessCorrection: Corrigendum: Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
Scientific Reports 7: Article number: 43953; published online: 09 March 2017; updated: 05 April 2017 In this Article, Javier Martin is incorrectly listed as being affiliated with “Departamento de Genética e In...
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Article
Open AccessAnalysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotypin...
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Article
Epigenetics and Vasculitis: a Comprehensive Review
Vasculitides represent a group of relatively rare systemic inflammatory diseases of the blood vessels. Despite recent progress in understanding the genetic basis and the underlying pathogenic mechanisms in vas...
