scholarly journals Systemic Lupus Erythematosus: Recent Concepts in Genomics, Pathogenetic Mechanisms, and Therapies

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Sriram Krishnamurthy ◽  
Subramanian Mahadevan

Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disorder associated with multiple immunological abnormalities and a wide range of clinical manifestations. Recent progress in genetics has expanded the number of the genes associated with SLE to more than 20 in number and has contributed to improvement of understanding of the pathogenesis of the disease. This has enhanced the development of novel therapeutic targets and biomarkers for individualized and tailor-made clinical management of lupus patients. Despite this knowledge, however, it is a challenge to fully understand the genetic pathogenesis of the disease. The present paper describes the current concepts in the mechanisms, genomics, and pathogenesis of SLE and their implications for management of the disorder. The potential role of gene therapy, biological agents, intravenous immunoglobulin, anti-inflammatory cytokines, and cytokine inhibitors is discussed.

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Vanessa Ocampo-Piraquive ◽  
Inés Mondragón-Lenis ◽  
Juan G. De los Rios ◽  
Carlos A. Cañas

Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease with various clinical manifestations, including, rarely, a form of interstitial cystitis (lupus cystitis, LC). LC can be asymptomatic and usually has discrete symptoms that improve with conventional therapies available for SLE and/or typical interstitial cystitis. A very severe and refractory form is rarely described. In this study, we present four patients with SLE and a very severe form of noninfectious cystitis refractory to the different forms of treatment described. The clinical descriptions of the cases, demographic factors, manifestations associated with SLE, and clinical and paraclinical manifestations related to cystitis, treatments, and outcomes are provided. A proposal for the pathogenesis of this condition is based on the common findings of these patients, including the fact that three were in SLE remission and all four receiving rituximab as induction and/or maintenance therapy.


2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Massimiliano Sarra ◽  
Giovanni Monteleone

Systemic Lupus Erythematosus (SLE) is an autoimmune disorder characterized by excessive production of a variety of autoantibodies and a wide range of clinical manifestations. Pathogenesis of SLE is complex and not fully understood. There is however evidence that B and T cells are critical to the development of disease, and that T cell-derived cytokines are involved in the SLE-associated inflammatory response. One such cytokine seems to be interleukin (IL)-21, the latest identified member of the -chain-related cytokine family. IL-21 has an important role in the control of the growth, survival, differentiation, and function of both T and B cells, and excessive production of IL-21 has been associated with the development of multiple immune-mediated diseases. Here we review data supporting the involvement of IL-21 in the pathogenesis of SLE.


2018 ◽  
Vol 38 (4) ◽  
pp. 1031-1038 ◽  
Author(s):  
Li Jin ◽  
Xuan Fang ◽  
Chao Dai ◽  
Nan Xiang ◽  
Jinhui Tao ◽  
...  

2021 ◽  
Vol 7 (3) ◽  
pp. 28-34
Author(s):  
Yu. Minakova ◽  
M. Silenko ◽  
O. Ivanova

Damage to the nervous system (neurolupus) is one of the most common clinical manifestations of systemic lupus erythematosus (SLE) in childhood, and is also considered as an unfavorable prognostic criterion for the course of this disease. Neurolupus is characterized by a wide range of clinical manifestations in both children and adult patients, which is due in most cases to a common pathogenetic mechanism - the formation of systemic microvasculitis. The non-specificity and variability of neuropsychiatric symptoms, which may appear already at the onset of the disease, significantly complicate the early diagnosis of SLE and necessitate a close acquaintance of the pediatrician with neurolupus polymorphism in children.


Cells ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 140 ◽  
Author(s):  
Yasuo Nagafuchi ◽  
Hirofumi Shoda ◽  
Keishi Fujio

Systemic lupus erythematosus (SLE) is an autoimmune disorder with a wide range of clinical symptoms. Enormous progress has been made in the immunological and genetic understanding of SLE. However, the biology of disease heterogeneity in SLE has remained largely unexplored. Human immune profiling studies, helped by recent technological advances especially in single-cell and “omics” analyses, are now shedding light on the cellular and molecular basis of clinical symptoms and disease flares in individual patients. Peripheral blood immunophenotyping analysis with flow cytometry or mass cytometry are identifying responsible cell subsets and markers characteristic of disease heterogeneity. Transcriptome analysis is discovering molecular networks responsible for disease activity, disease subtype and future relapse. In this review, we summarize recent advances in the immune profiling analysis of SLE patients and discuss how they will be used for future precision medicine.


2012 ◽  
Vol 2012 ◽  
pp. 1-17 ◽  
Author(s):  
John J. Connolly ◽  
Hakon Hakonarson

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, known to have a strong genetic component. Concordance between monozygotic twins is approximately 30–40%, which is 8–20 times higher than that of dizygotic twins. In the last decade, genome-wide approaches to understanding SLE have yielded many candidate genes, which are important to understanding the pathophysiology of the disease and potential targets for pharmaceutical intervention. In this paper, we focus on the role of cytokines and examine how genome-wide association studies, copy number variation studies, and next-generation sequencing are being employed to understand the etiology of SLE. Prominent genes identified by these approaches includeBLK, FCγR3B,andTREX1. Our goal is to present a brief overview of genomic approaches to SLE and to introduce some of the key discussion points pertinent to the field.


2014 ◽  
Vol 38 (6) ◽  
Author(s):  
Mohammad Najafi ◽  
Freshteh Parto ◽  
Parisa Mohammadi ◽  
Mohammad Shabani

AbstractSystemic lupus erythematosus (SLE) is an autoimmune disease with different clinical manifestations. The inflammatory and oxidative modification reactions are the most important events associated with cardiovascular complications of SLE patients. The aim of this study was to investigate the nitric oxide (NO) and the oxidized low-density lipoprotein (Ox-LDL) levels in order to explain the role of oxidized particles in development of clinical manifestations.A total of 80 subjects, SLE patients (n=40) and healthy controls (n=40), were recruited and matched regarding to age, gender, and body mass index (BMI). The biochemical parameters were measured using routine laboratory methods. The plasma Ox-LDL and NO levels were assayed with ELISA and colorimetric techniques, respectively.The plasma NO level was significantly high in SLE patients (33.03±18.09 μmol/mL) in comparison to healthy controls (15.25±11.54 μmol/mL). In contrast, the total and normalized (Ox-LDL/LDL) plasma Ox-LDL values were low in SLE patients (p=0.2 and p<0.05, respectively). A linear negative correlation was also observed between the plasma Ox-LDL and NO levels (r=0.25, p<0.05). Multiple logistic regression analysis showed the critical role of NO on Ox-LDL level. Moreover, the disease activity and medications did not relate to the plasma Ox-LDL level (p>0.5).The results showed that the excess NO prevents the oxidation of LDL particles so that the inflammatory events in comparison to oxidative modifications may be most involved in clinical complications of SLE patients.


2014 ◽  
Vol 2 (4) ◽  
pp. 662-667 ◽  
Author(s):  
Rada Miskovic ◽  
Aleksandra Plavsic ◽  
Jasna Bolpacic ◽  
Sanvila Raskovic ◽  
Mirjana Bogic

Vitamin D is a steroid hormone that in addition to its well known role in the metabolism of calcium and phosphorus exerts immunoregulatory properties. Data from animal studies and from prospective clinical trials on patients with rheumatoid arthritis, multiple sclerosis and type 1 diabetes point to the potential role of vitamin D as important environmental factor in the development of autoimmune diseases. Such role of vitamin D in systemic lupus erythematosus (SLE) has not yet been sufficiently studied. This review shows the sources, metabolism and mechanism of action of vitamin D, its effect on the cells of the immune system, prevalence and causes of vitamin D deficiency in patients with SLE, the link between vitamin D status and disease activity as well as recommendations for vitamin D supplementation.


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