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Auto- Immunity Highlights

Ricardo Núñez Miguel, Jane Sanders, Jadwiga Furmaniak, Bernard Rees Smith
PURPOSE: The thyroid-stimulating hormone receptor (TSHR) is the target autoantigen for TSHR-stimulating autoantibodies in Graves' disease. The TSHR is composed of: a leucine-rich repeat domain (LRD), a hinge region or cleavage domain (CD) and a transmembrane domain (TMD). The binding arrangements between the TSHR LRD and the thyroid-stimulating autoantibody M22 or TSH have become available from the crystal structure of the TSHR LRD-M22 complex and a comparative model of the TSHR LRD in complex with TSH, respectively...
December 2017: Auto- Immunity Highlights
Mónica Vázquez-Del Mercado, Eduardo Gómez-Bañuelos, Rosa Elena Navarro-Hernández, Oscar Pizano-Martinez, Adan Saldaña-Millán, Efrain Chavarria-Avila, Lorena Gonzalez-Rosas, Lilia Andrade-Ortega, Miguel Angel Saavedra, Olga Lidia Vera-Lastra, Luis Javier Jara, Gabriel Medrano-Ramírez, Claudia Cruz-Reyes, Ignacio García-De la Torre, Marta Escarra-Senmarti, Lisiane Maria Enriconi-Dos Anjos, Anamika Basu, Roger Albesa, Michael Mahler, Carlos A Casiano
PURPOSE: Antinuclear autoantibodies (ANA) targeting the dense fine speckled antigen DFS70, also known as lens epithelium-derived growth factor p75 (LEDGF/p75), are attracting attention due to their low frequency in systemic rheumatic diseases but increased frequency in clinical laboratory referrals and healthy individuals (HI). These ANA specifically recognize the stress protein DFS70/LEDGFp75, implicated in cancer, HIV-AIDS, and inflammation. While their frequency has been investigated in various ethnic populations, there is little information on their frequency among Hispanics/Latinos...
December 2017: Auto- Immunity Highlights
Sabine L Kramp, Dmitry Karayev, Guo Shen, Allan L Metzger, Robert I Morris, Eugene Karayev, Yvonne Lam, Richard M Kazdan, Ger J M Pruijn, Sandra Saschenbrecker, Cornelia Dähnrich, Wolfgang Schlumberger
PURPOSE: Sporadic inclusion body myositis (sIBM) is an autoimmune degenerative disease of the muscle, with inflammatory infiltrates and inclusion vacuoles. Its pathogenesis is not fully understood and the diagnosis is hampered by its imprecise characteristics, at times indistinguishable from other idiopathic inflammatory myopathies such as polymyositis and dermatomyositis. The diagnosis may be assisted by the detection of autoantibodies targeting Mup44, a skeletal muscle antigen identified as cytosolic 5'-nucleotidase 1A (cN-1A, NT5C1A)...
December 2016: Auto- Immunity Highlights
S John Calise, Nicola Bizzaro, Thuy Nguyen, Danila Bassetti, Brunetta Porcelli, Paolo Almi, Giuseppina Barberio, Giampaola Pesce, Minoru Satoh, Edward K L Chan
PURPOSE: Autoantibodies to intracellular 'rods and rings' structures (anti-rods/rings or anti-RR) are strongly associated with hepatitis C (HCV) patients treated with interferon-α/ribavirin (IFN/RBV) and are linked with non-responsiveness to IFN/RBV or relapse, especially in Italian patients. This is the first study to determine whether there is any correlation of anti-RR with non-responsiveness to IFN/RBV treatment in patients also treated with telaprevir (TPV), one of several new therapies for chronic HCV recently implemented...
December 2016: Auto- Immunity Highlights
M Sánchez-Castañon, B G Castro, M Toca, C Santacruz, M Arias-Loste, P Iruzubieta, J Crespo, Marcos López-Hoyos
AIM: The enumeration of intraepithelial lymphocytes subsets (total, γδ, and CD3(-) IELs) by flow cytometry (FCM), named as IEL lymphogram, constitutes a useful tool for celiac disease (CD) diagnosis. The aim of this study was to quantify IELs by FCM and their diagnostic value to differentiate active, silent and potential CD. METHODS: Prospective study of 60 active and 20 silent CD patients, and 161 controls in which duodenal biopsy and IEL quantification by FCM was performed...
December 2016: Auto- Immunity Highlights
Lazaros I Sakkas, Dimitrios P Bogdanos
Exogenous and endogenous environmental exposures and particularly infections may participate in the breakage of tolerance and the induction of autoimmunity in rheumatic diseases. Response to infections apparently occurs years before clinical manifestations and features of autoimmunity, such as autoantibodies, are detected years before clinical manifestations in autoimmune rheumatic diseases. In this review, we summarize the current evidence for a potential causal link between infectious agents and rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjogren's syndrome and ANCA-associated vasculitis...
December 2016: Auto- Immunity Highlights
Maria Sokratous, Efthimios Dardiotis, Zisis Tsouris, Eleni Bellou, Amalia Michalopoulou, Vasileios Siokas, Stylianos Arseniou, Tzeni Stamati, Georgios Tsivgoulis, Dimitrios Bogdanos, Georgios M Hadjigeorgiou
Multiple sclerosis (MS) is an autoimmune inflammatory and neurodegenerative disease of the central nervous system that involves several not yet fully elucidated pathophysiologic mechanisms. There is increasing evidence that epigenetic modifications at level of DNA bases, histones, and micro-RNAs may confer risk for MS. DNA methylation seems to have a prominent role in the epigenetics of MS, as aberrant methylation in the promoter regions across genome may underlie several processes involved in the initiation and development of MS...
December 2016: Auto- Immunity Highlights
Giulia Di Dalmazi, Jason Hirshberg, Daniel Lyle, Joudeh B Freij, Patrizio Caturegli
Reactive oxygen species (ROS) have been extensively studied in the induction of inflammation and tissue damage, especially as it relates to aging. In more recent years, ROS have been implicated in the pathogenesis of autoimmune diseases. Here, ROS accumulation leads to apoptosis and autoantigen structural changes that result in novel specificities. ROS have been implicated not only in the initiation of the autoimmune response but also in its amplification and spreading to novel epitopes, through the unmasking of cryptic determinants...
December 2016: Auto- Immunity Highlights
Simón Gundín, Juan Irure-Ventura, Esther Asensio, David Ramos, Michael Mahler, Victor Martínez-Taboada, Marcos López-Hoyos
The presence of antinuclear antibodies (ANA) is associated with a wide range of ANA-associated autoimmune rheumatic diseases (AARD). The most commonly method used for the detection of ANA is indirect immunofluorescence (IIF) on HEp-2 cells. This method is very sensitive but unspecific. As a consequence, ANA testing on HEp-2 substrates outside a proper clinical specialist framework may lead to inappropriate referrals to tertiary care specialists and, worst case inappropriate and potentially toxic therapy for the patient...
December 2016: Auto- Immunity Highlights
Elio Tonutti, Nicola Bizzaro, Gabriella Morozzi, Antonella Radice, Luigi Cinquanta, Danilo Villalta, Renato Tozzoli, Marilina Tampoia, Brunetta Porcelli, Martina Fabris, Ignazio Brusca, Maria Grazia Alessio, Giuseppina Barberio, Maria Concetta Sorrentino, Antonio Antico, Danila Bassetti, Desré Ethel Fontana, Tiziana Imbastaro, Daniela Visentini, Giampaola Pesce, Marcello Bagnasco
Reflex tests are widely used in clinical laboratories, for example, to diagnose thyroid disorders or in the follow-up of prostate cancer. Reflex tests for antinuclear antibodies (ANA) have recently gained attention as a way to improve appropriateness in the immunological diagnosis of autoimmune rheumatic diseases and avoid waste of resources. However, the ANA-reflex test is not as simple as other consolidated reflex tests (the TSH-reflex tests or the PSA-reflex tests) because of the intrinsic complexity of the ANA test performed by the indirect immunofluorescence method on cellular substrates...
December 2016: Auto- Immunity Highlights
Chelsea Bentow, Marvin J Fritzler, Eckart Mummert, Michael Mahler
PURPOSE: The dense fine speckled (DFS) pattern as detected by indirect immunofluorescence (IIF) on HEp-2 cells has been associated with several inflammatory diseases but is most commonly observed in individuals that do not have an antinuclear antibody (ANA)-associated rheumatic disease and even in apparently healthy individuals. Consequently, the accurate identification and correct reporting of this IIF pattern is of utmost importance and accordingly has been recognized by several international study groups for the detection of ANA...
December 2016: Auto- Immunity Highlights
Viera Boccuti, Antonio Perrone, Alessia D'Introno, Anna Campobasso, Moris Sangineto, Carlo Sabbà
Autoimmune disorders are known to be more frequent in women and often associated each others, but it is rare to see multiple autoimmune diseases in a single patient. Recently, the concept of multiple autoimmune syndrome has been introduced to describe patients with at least three autoimmune diseases. We describe a case of a young man with a clinical history of psychiatric symptoms and celiac disease (CD) who was diagnosed to have other two autoimmune disorders: systemic lupus erythematosus (SLE) and Hashimoto's thyroiditis...
December 2016: Auto- Immunity Highlights
Samuel Antwi-Baffour, Ransford Kyeremeh, Jonathan Kofi Adjei, Claudia Aryeh, George Kpentey
The complement system is an enzyme cascade that helps defend against infection. Many complement proteins occur in serum as inactive enzyme precursors or reside on cell surfaces. Complement components have many biologic functions and their activation can eventually damage the plasma membranes of cells and some bacteria. Although a direct link between complement activation and autoimmune diseases has not been found, there is increasing evidence that complement activation significantly contributes to the pathogenesis of a large number of inflammatory diseases that may have autoimmune linkage...
December 2016: Auto- Immunity Highlights
Maria De Santis, Angela Ceribelli, Francesca Cavaciocchi, Chiara Crotti, Marco Massarotti, Laura Belloli, Bianca Marasini, Natasa Isailovic, Elena Generali, Carlo Selmi
PURPOSE: Nailfold videocapillaroscopy (NVC) identifies the microvascular hallmarks of systemic sclerosis (SSc) and vascular endothelial growth factor (VEGF) and may play a pivotal role in the associated vasculopathy. The aim of the present study was to compare NVC alterations with clinical subsets, internal organ involvement, and serum VEGF levels in a cohort of selected SSc cases. METHODS: We studied 44 patients with SSc who were evaluated within 3 months from enrollment by NVC, skin score, severity index, pulmonary function tests, carbon monoxide diffusing capacity (DLCO), echocardiography, pulmonary high-resolution computed tomography (HRCT), gastroesophageal (GE) endoscopy or manometry or X-ray, and serum autoantibodies...
December 2016: Auto- Immunity Highlights
Mohamad J Zeidan, David Saadoun, Marlene Garrido, David Klatzmann, Adrien Six, Patrice Cacoub
Behçet's disease, also known as the Silk Road Disease, is a rare systemic vasculitis disorder of unknown etiology. Recurrent attacks of acute inflammation characterize Behçet's disease. Frequent oral aphthous ulcers, genital ulcers, skin lesions and ocular lesions are the most common manifestations. Inflammation is typically self-limiting in time and relapsing episodes of clinical manifestations represent a hallmark of Behçet's disease. Other less frequent yet severe manifestations that have a major prognostic impact involve the eyes, the central nervous system, the main large vessels and the gastrointestinal tract...
December 2016: Auto- Immunity Highlights
Giorgio Caturegli, Patrizio Caturegli
INTRODUCTION: The hygiene hypothesis, formulated to explain the increased incidence of allergic and autoimmune diseases observed in industrialized countries, remains controversial. We reflected upon this hypothesis during a medical mission to rural and impoverished villages of central Peru. MATERIALS AND METHODS: The mission was carried out in July 2015 to aid three Andean villages located near Cusco, and comprised 10 American physicians, 4 nurses, and 24 students...
December 2016: Auto- Immunity Highlights
Kai Grossmann, Nadja Röber, Rico Hiemann, Stefan Rödiger, Peter Schierack, Dirk Reinhold, Martin W Laass, Karsten Conrad, Dirk Roggenbuck
PURPOSE: Celiac disease (CD) serology requires analysis of tissue transglutaminase type-2 (TG2autoAbs), deamidated gliadin (DGAbs), and as reference endomysial autoantibodies (EmA). Total IgA assessment helps to determine IgA-deficient CD patients. The novel multiplex indirect immunofluorescence (IIF) technique CytoBead was used to develop the first quantitative one-step serological CD assay comprising both simultaneous IgA autoAb and total IgA testing. METHODS: CytoBead CeliAK detecting TG2autoAb, DGAb, EmA, and simultaneously total IgA uses fluorescent microparticles for antigen and antibody immobilization along with monkey-esophagus tissue sections on glass slides...
December 2016: Auto- Immunity Highlights
Jan Damoiseaux, Carlos A von Mühlen, Ignacio Garcia-De La Torre, Orlando Gabriel Carballo, Wilson de Melo Cruvinel, Paulo Luiz Carvalho Francescantonio, Marvin J Fritzler, Manfred Herold, Tsuneyo Mimori, Minoru Satoh, Luis E C Andrade, Edward K L Chan, Karsten Conrad
The International Consensus on ANA Patterns (ICAP) was initiated as a workshop aiming to thoroughly discuss and achieve consensus regarding the morphological patterns observed in the indirect immunofluorescence assay on HEp-2 cells. One of the topics discussed at the second ICAP workshop, and addressed in this paper, was the harmonization of reporting ANA test results. This discussion centered on the issue if cytoplasmic and mitotic patterns should be reported as positive or negative. This report outlines the issues that impact on two major different reporting methods...
December 2016: Auto- Immunity Highlights
Despina Michailidou, Junghee Shin, Inga Forde, Kavitha Gopalratnam, Paul Cohen, Angela DeGirolamo
Adult onset Still's disease (AOSD) is a systemic auto-inflammatory condition of unknown etiology, characterized by high fever, an evanescent, salmon-pink maculopapular skin rash, arthralgia or arthritis and leukocytosis. AOSD can also present with atypical cutaneous manifestations, such as persistent pruritic coalescent papules or plaques and linear lesions that have highly distinctive pathological features and are usually associated with severe disease. Herein, we present a 31-year-old Brazilian man with both typical Still's rash and atypical persistent polymorphic cutaneous manifestations associated with severe systemic inflammatory response syndrome...
December 2015: Auto- Immunity Highlights
Federica D'Aurizio, Paolo Metus, Annalisa Polizzi Anselmo, Danilo Villalta, Anna Ferrari, Roberto Castello, Graziella Giani, Elio Tonutti, Nicola Bizzaro, Renato Tozzoli
AIM OF THE STUDY: The estimation of the upper reference limit (URL) for autoantibodies against thyroid peroxidase (TPOAbs) is a controversial issue, because of an uncertainty associated with the criteria used to correctly define the reference population. In addition, the URL of TPOAbs is method-dependent and often arbitrarily established in current laboratory practice. The aim of this study was to determine the reference limits of TPOAbs in a male sample according to the National Academy of Clinical Biochemistry (NACB) guidelines, and to compare them with those obtained in a female group, for five third-generation commercial-automated immunoassay (IMA) platforms...
December 2015: Auto- Immunity Highlights
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