Autoimmune Diseases最新文献

{"title":"Coeliac disease.","authors":"Raffaella Nenna, Stefano Guandalini, Alina Popp, Kalle Kurppa","doi":"10.1155/2014/623784","DOIUrl":"https://doi.org/10.1155/2014/623784","url":null,"abstract":"Celiac disease is an autoimmune disorder, caused by a permanent intolerance to gluten contained in wheat and to similar prolamines present in barley and rye. It is a common disease as its prevalence, in Caucasian populations, is about 1%. There are several patterns of clinical presentation: typical (with gastrointestinal symptoms), atypical (extraintestinal manifestations), and silent forms, all characterized by typical histological lesions in the small bowel mucosa. Nowadays the gluten-free diet for life is the only therapy available for CD. Considerable progress has been made due to advances in molecular biology, which have allowed better understanding of the genetic mechanisms involved in CD and the identification of new pathogenetic pathways that have the potential to be targeted by new drugs. In this special issue, we have invited authors to contribute original papers that will stimulate the continuing efforts to understand the pathogenesis and heterogeneous clinical presentation of celiac disease. Immunogenic peptides, created by deamidation of food-derived gliadin peptides by small intestinal tissue transglu-taminase, are presented by antigen-presenting cells, mostly dendritic cells bearing HLA-DQ2 and DQ8 molecules, to proinflammatory CD4+ T cells, activating them. E. Liu et al. investigated peripheral T cell responses from young children with newly diagnosed CD prior to treatment with a gluten-free diet, finding that T cell reactivity is heterogeneous but favors reactivity with í µí»¼-gliadin epitopes more than í µí»¾-gliadin. Metabolomics is a rapidly emerging new concept in science that appears to have relevant application also in the field of celiac disease. In their meticulous review, A. Cal-abrò et al. highlight the metabolomics perspective on celiac disease. Furthermore, the growing recognition of the important role of gut microbiota in the development of celiac disease and other food-related disorders is addressed and thoroughly reviewed. Healing of the small bowel mucosa is directly dependent on the adherence to the gluten-free diet, and its assessment by noninvasive tools has been a long-time objective of research in celiac disease, with the aim of establishing suitable minimally invasive methods both for diagnosing and for adequate follow-up of celiac disease and of the adequacy of the gluten-free diet. In their study, E. Trigoni et al. concluded that anti-endomysium antibodies had better ability, at least in adult individuals, than anti-tissue transglutaminase to predict celiac disease and to assess the gluten-free diet in the critical period of the first semester after diagnosis and the beginning of the diet. Among the atypical clinical forms of …","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"623784"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/623784","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32472054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genes associated with SLE are targets of recent positive selection.","authors":"Paula S Ramos, Stephanie R Shaftman, Ralph C Ward, Carl D Langefeld","doi":"10.1155/2014/203435","DOIUrl":"10.1155/2014/203435","url":null,"abstract":"<p><p>The reasons for the ethnic disparities in the prevalence of systemic lupus erythematosus (SLE) and the relative high frequency of SLE risk alleles in the population are not fully understood. Population genetic factors such as natural selection alter allele frequencies over generations and may help explain the persistence of such common risk variants in the population and the differential risk of SLE. In order to better understand the genetic basis of SLE that might be due to natural selection, a total of 74 genomic regions with compelling evidence for association with SLE were tested for evidence of recent positive selection in the HapMap and HGDP populations, using population differentiation, allele frequency, and haplotype-based tests. Consistent signs of positive selection across different studies and statistical methods were observed at several SLE-associated loci, including PTPN22, TNFSF4, TET3-DGUOK, TNIP1, UHRF1BP1, BLK, and ITGAM genes. This study is the first to evaluate and report that several SLE-associated regions show signs of positive natural selection. These results provide corroborating evidence in support of recent positive selection as one mechanism underlying the elevated population frequency of SLE risk loci and supports future research that integrates signals of natural selection to help identify functional SLE risk alleles. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"203435"},"PeriodicalIF":1.7,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32170477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rituximab for remission induction and maintenance in refractory systemic lupus erythematosus.","authors":"Fabio Bonilla-Abadía,&nbsp;Nicolás Coronel Restrepo,&nbsp;Gabriel J Tobón,&nbsp;Andrés F Echeverri,&nbsp;Evelyn Muñoz-Buitrón,&nbsp;Andres Mauricio Castro,&nbsp;Mercedes Andrade Bejarano,&nbsp;Carlos A Cañas","doi":"10.1155/2014/731806","DOIUrl":"https://doi.org/10.1155/2014/731806","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease with high morbidity if untreated. Sometimes, despite aggressive treatments, the disease remains active with cumulative organic damage. We conducted a retrospective and descriptive observational study of patients with SLE refractory to conventional treatment who were treated with rituximab (RTX) as remission induction therapy and maintenance. There was a significant reduction in the conventional immunosuppressive drug dose and the number of relapses of disease. RTX appeared to be effective and safe for the induction and maintenance of remission in patient with SLE refractory to conventional treatment. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"731806"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/731806","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32115381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of decay accelerating factor in environmentally induced and idiopathic systemic autoimmune disease.","authors":"Christopher B Toomey,&nbsp;David M Cauvi,&nbsp;Kenneth M Pollard","doi":"10.1155/2014/452853","DOIUrl":"https://doi.org/10.1155/2014/452853","url":null,"abstract":"<p><p>Decay accelerating factor (DAF) plays a complex role in the immune system through complement-dependent and -independent regulation of innate and adaptive immunity. Over the past five years there has been accumulating evidence for a significant role of DAF in negatively regulating adaptive T-cell responses and autoimmunity in both humans and experimental models. This review discusses the relationship between DAF and the complement system and highlights major advances in our understanding of the biology of DAF in human disease, particularly systemic lupus erythematosus. The role of DAF in regulation of idiopathic and environmentally induced systemic autoimmunity is discussed including studies showing that reduction or absence of DAF is associated with autoimmunity. In contrast, DAF-mediated T cell activation leads to cytokine expression consistent with T regulatory cells. This is supported by studies showing that interaction between DAF and its molecular partner, CD97, modifies expression of autoimmunity promoting cytokines. These observations are used to develop a hypothetical model to explain how DAF expression may impact T cell differentiation via interaction with CD97 leading to T regulatory cells, increased production of IL-10, and immune tolerance. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"452853"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/452853","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32174768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Idiopathic uveitis and familial mediterranean Fever: is there any relationship?","authors":"Farhad Salehzadeh,&nbsp;Ozra Yasrebi,&nbsp;Mahsa Hosseini Khotbesara,&nbsp;Maryam Hosseini Khotbesara","doi":"10.1155/2014/238931","DOIUrl":"https://doi.org/10.1155/2014/238931","url":null,"abstract":"<p><p>Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF. Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria). Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results. Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"238931"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/238931","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32172138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD8+DR+ T-Cells and C3 Complement Serum Concentration as Potential Biomarkers in Thrombotic Antiphospholipid Syndrome.","authors":"Elizabeth Sarmiento,&nbsp;Jonathan Dale,&nbsp;Mauricio Arraya,&nbsp;Antonio Gallego,&nbsp;Nallibe Lanio,&nbsp;Joaquin Navarro,&nbsp;Javier Carbone","doi":"10.1155/2014/868652","DOIUrl":"https://doi.org/10.1155/2014/868652","url":null,"abstract":"<p><p>Purpose. To assess complement factors and T lymphocyte activation subset abnormalities in patients with thrombotic antiphospholipid syndrome (APS) as potential biomarkers for development of clinical complications. Methods. We assessed C3, C4, factor B concentrations (nephelometry), complement haemolytic functional activity (CH100, radial immune diffusion), and the activation status of CD4+ and CD8+ T-cells (three-colour flow cytometry) in patients with thrombotic APS. Antiphospholipid (aPL) positive patients without APS-related clinical criteria, systemic lupus erythematosus (SLE) patients, and healthy individuals were evaluated as controls. A clinical followup was performed to assess the potential relationship between the immunological parameters and development of APS-related complications. Results. Lower concentrations of C3 and higher levels of CD8+DR+ cells were risk factors for development of APS-related complications during followup, including rethrombosis and neuropsychiatric symptoms. Patients with diagnosed thrombotic APS had significantly lower levels of C3, C4, and CH100 as well as higher percentages of activated CD4+DR+ and of CD8+DR+ T-cells than healthy controls but similar to that observed in autoimmune disease controls. Conclusion. Lower C3 and C4 complement levels and higher percentages of CD8+DR+ T-cells were observed in thrombotic APS patients. The potential role of these abnormalities as biomarkers of clinical outcome warrants further evaluation in a multicenter study. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"868652"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/868652","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32472055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Environmental triggers and autoimmunity.","authors":"Aristo Vojdani,&nbsp;K Michael Pollard,&nbsp;Andrew W Campbell","doi":"10.1155/2014/798029","DOIUrl":"https://doi.org/10.1155/2014/798029","url":null,"abstract":"Currently, studies have shown that genetic predisposition accounts for approximately thirty percent of all autoimmune diseases. The rest, 70 percent, are due to environmental factors, including toxic chemicals, dietary components, gut dysbiosis, and infections (Figure 1). \u0000 \u0000 \u0000 \u0000Figure 1 \u0000 \u0000Factors that contribute to autoimmune disease. \u0000 \u0000 \u0000 \u0000Autoimmune disorder symptoms are initially nonspecific and include malaise and fatigue, low-grade fevers, aches, and pains. Due to this vagueness, patients are frequently diagnosed with an autoimmune disease after they become weak and unable to function normally, making the onset of the disease difficult to pinpoint and the possible triggers uncertain. \u0000 \u0000In this issue, we present a series of papers that review, discuss, and elaborate on various environmental triggers of autoimmunity. \u0000 \u0000A. Vojdani presents an extensive review of potential triggers of autoimmunity. The author discusses the loss of immune homeostasis and explains the mechanism of autoimmunity as related to infectious triggers by molecular mimicry, epitope spreading, and bystander activation. He describes the effects of dietary components, focusing particularly on recent studies with sodium chloride to explain the effects of this commonly used mineral on the immune system, in particular TH17, leading to an increased risk of autoimmunity. Milk and wheat components are reviewed, as are gluten sensitivity, celiac disease, and oral pathogens in their role in the induction of autoimmune diseases. \u0000 \u0000Over the last few years, studies have amplified our previous knowledge of the gut and demonstrated its wide-ranging importance and its potentials for triggering autoimmunity when dysbiosis occurs as a result of environmental factors (Figure 2). A. W. Campbell's review brings up essential facts about some of these environmental factors affecting not only the gut but also the mucosal immunity and describes gut microbiota links to autoimmune diseases. The author discusses the importance of early detection of autoimmunity via antibody testing to bring about a better outcome for patients by removing offending triggers. \u0000 \u0000 \u0000 \u0000Figure 2 \u0000 \u0000Mechanism for the induction of autoimmunity and neuroautoimmunity by environmental triggers. \u0000 \u0000 \u0000 \u0000A very interesting research article is presented in this issue by I. Burazor and A. Vojdani, discussing the strong link between poor dental health and cardiovascular disease due to several bacteria and then studying the potential association between these pathogens, the antibodies produced against them, and elevation of markers for inflammation in patients with acute myocardial atherothrombosis (AMA). \u0000 \u0000Decay-accelerating factor 1 (DAF1) or CD55 is a 70 KDa member of proteins which regulates complement system on the cell surfaces and protects cells from complement attack. In their review, C. B. Toomey et al. discussed the relationship between DAF1 and the complement system in the regulation of environmentally induced autoimm","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"798029"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/798029","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33323622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum leptin levels in treatment-naive patients with clinically isolated syndrome or relapsing-remitting multiple sclerosis.","authors":"Maria Eleftheria Evangelopoulos,&nbsp;Georgios Koutsis,&nbsp;Manolis Markianos","doi":"10.1155/2014/486282","DOIUrl":"https://doi.org/10.1155/2014/486282","url":null,"abstract":"<p><p>Several studies have investigated leptin levels in patients with multiple sclerosis (MS) with somewhat conflicting results. They have all focused on patients with established relapsing-remitting (RR) MS but have not specifically looked at patients with clinically isolated syndrome (CIS) suggestive of MS, in the early stages of disease. In this study, serum leptin levels were measured in 89 treatment-naïve patients with CIS (53 patients) or RRMS (36 patients) and 73 controls searching for differences between the groups and for associations with several disease parameters. The expected significant sexual dimorphism in leptin levels (higher levels in females) was observed in both MS patients and controls. Increased leptin levels were found in female patients with RRMS compared to female controls (P = .003) and female CIS patients (P = .001). Female CIS patients had comparable levels to controls. Leptin levels correlated positively to disease duration, but not to EDSS, in female patients with RRMS. The results of the present study do not indicate involvement of leptin in the early stages of MS. Normal leptin levels in patients with CIS suggest that leptin does not have a pathogenic role. The ratio leptin/BMI increases during disease course in female MS patients in a time-dependent and disability-independent manner. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"486282"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/486282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32908882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current understanding on the role of standard and immunoproteasomes in inflammatory/immunological pathways of multiple sclerosis.","authors":"Elena Bellavista,&nbsp;Aurelia Santoro,&nbsp;Daniela Galimberti,&nbsp;Cristoforo Comi,&nbsp;Fabio Luciani,&nbsp;Michele Mishto","doi":"10.1155/2014/739705","DOIUrl":"https://doi.org/10.1155/2014/739705","url":null,"abstract":"<p><p>The ubiquitin-proteasome system is the major intracellular molecular machinery for protein degradation and maintenance of protein homeostasis in most human cells. As ubiquitin-proteasome system plays a critical role in the regulation of the immune system, it might also influence the development and progression of multiple sclerosis (MS). Both ex vivo analyses and animal models suggest that activity and composition of ubiquitin-proteasome system are altered in MS. Proteasome isoforms endowed of immunosubunits may affect the functionality of different cell types such as CD8(+) and CD4(+) T cells and B cells as well as neurons during MS development. Furthermore, the study of proteasome-related biomarkers, such as proteasome antibodies and circulating proteasomes, may represent a field of interest in MS. Proteasome inhibitors are already used as treatment for cancer and the recent development of inhibitors selective for immunoproteasome subunits may soon represent novel therapeutic approaches to the different forms of MS. In this review we describe the current knowledge on the potential role of proteasomes in MS and discuss the pro et contra of possible therapies for MS targeting proteasome isoforms. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"739705"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2014/739705","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32112645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Potential Link between Environmental Triggers and Autoimmunity.","authors":"Aristo Vojdani","doi":"10.1155/2014/437231","DOIUrl":"10.1155/2014/437231","url":null,"abstract":"<p><p>Autoimmune diseases have registered an alarming rise worldwide in recent years. Accumulated evidence indicates that the immune system's ability to distinguish self from nonself is negatively impacted by genetic factors and environmental triggers. Genetics is certainly a factor, but since it normally takes a very long time for the human genetic pattern to change enough to register on a worldwide scale, increasingly the attention of studies has been focused on the environmental factors of a rapidly changing and evolving civilization. New technology, new industries, new inventions, new chemicals and drugs, and new foods and diets are constantly and rapidly being introduced in this fast-paced ever-changing world. Toxicants, infections, epitope spreading, dysfunctions of immune homeostasis, and dietary components can all have an impact on the body's delicate immune recognition system. Although the precise etiology and pathogenesis of many autoimmune diseases are still unknown, it would appear from the collated studies that there are common mechanisms in the immunopathogenesis of multiple autoimmune reactivities. Of particular interest is the citrullination of host proteins and their conversion to autoantigens by the aforementioned environmental triggers. The identification of these specific triggers of autoimmune reactivity is essential then for the development of new therapies for autoimmune diseases. </p>","PeriodicalId":46314,"journal":{"name":"Autoimmune Diseases","volume":"2014 ","pages":"437231"},"PeriodicalIF":4.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32225529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}