Article
Medicine, General & Internal
Or Hen, Paula David, Yehuda Shoenfeld
Summary: ASIA syndrome, induced by adjuvants, encompasses a group of autoimmune conditions that thrive in genetically predisposed individuals, leading to various symptoms such as fatigue, sleep disturbances, and orthostatic intolerance. A case of an 18-year-old woman suffering from severe dysautonomia caused by the tetanus, diphtheria, and pertussis vaccine (Tdap) highlights the impact of this syndrome.
MEDICINA-LITHUANIA
(2021)
Article
Rheumatology
Jean-Baptiste Vulsteke, Rita Derua, Sylvain Dubucquoi, Frederic Coutant, Sebastien Sanges, David Goncalves, Greet Wuyts, Petra De Haes, Daniel Blockmans, Wim A. Wuyts, Kristl G. Claeys, Ellen De Langhe, Nicole Fabien, Xavier Bossuyt
Summary: New and known antisynthetase autoantibodies (ASAs) were discovered and detected through protein immunoprecipitation combined with gel-free liquid chromatography-tandem mass spectrometry (IP-MS). The dominant cognate ARS autoantigen of the newly discovered anti-Ly ASA specificity was identified. Unbiased and targeted IP-MS are promising methods for discovery and detection of autoantibodies.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Eileen W. Stalman, Luuk Wieske, Koos P. J. van Dam, Laura Y. Kummer, Zoe L. E. van Kempen, Joep Killestein, Adriaan G. Volkers, Sander W. Tas, Laura Boekel, Gertjan J. Wolbink, Anneke J. Van der Kooi, Joost Raaphorst, Mark Lowenberg, R. Bart Takkenberg, Geert R. A. M. D'Haens, Phyllis Spuls, Marcel W. Bekkenk, Annelie H. Musters, Nicoline F. Post, Angela L. Bosma, Marc L. Hilhorst, Yosta Vegting, Frederique J. Bemelman, Alexandre E. Voskuyl, Bo Broens, Agner Parra Sanchez, Cecile A. C. M. van Els, Jelle De Wit, Abraham Rutgers, Karina de Leeuw, Barbara Horvath, Jan J. G. M. Verschuuren, Annabel M. Ruiter, Lotte van Ouwerkerk, Diane van der Woude, C. F. Allaart, Onno Y. K. Teng, Pieter van Paassen, Matthias H. Busch, Papay B. P. Jallah, Esther Brusse, Pieter A. van Doorn, Adaja Elisabeth Baars, Dirk Jan Hijnen, Corine R. G. Schreurs, W. Ludo Van der Pol, H. Stephan Goedee, Maurice Steenhuis, Sofie Keijzer, Jim B. D. Keijser, Arend Boogaard, Olvi Cristianawati, Anja ten Brinke, Niels J. M. Verstegen, Koos A. H. Zwinderman, Theo Rispens, S. Marieke van Ham, Taco W. Kuijpers, Filip Eftimov
Summary: This study compared the cumulative incidence and disease severity of reported SARS-CoV-2 omicron breakthrough infections between patients with immune-mediated inflammatory diseases (IMID) on immunosuppressants and controls. The results showed that the cumulative incidence of breakthrough infections was high but similar between the two groups, and the disease severity was mostly mild. Additional vaccinations and prior SARS-CoV-2 infections were associated with a decreased risk of breakthrough infections.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Review
Immunology
A. M. Malkova, Y. Shoenfeld
Summary: Chronic fatigue syndrome (CFS), fibromyalgia, silicone breast implants syndrome (SBIs), COVID and post-COVID syndrome (PCS), sick building syndrome (SBS), post-orthostatic tachycardia syndrome (POTS), autoimmune diseases and autoimmune/inflammatory syndrome induced by adjuvants (ASIA) often exhibit clinical symptoms of dysautonomia, including severe fatigue, dizziness, fogginess, memory loss, dry mouth and eyes, hearing dysfunction, and tachycardia. Imbalance of autoantibodies against G protein-coupled receptors (GPCR) has been discovered in some of these conditions, suggesting a novel mechanism of autoimmune autonomic nervous system imbalance.
AUTOIMMUNITY REVIEWS
(2023)
Article
Immunology
Tal Elroy, Gilad Halpert, Avishai M. Tsur, Harald Heidecke, Howard Amital, Yehuda Shoenfeld
Summary: Our study explored the possible association between palpitation symptoms in women with silicone breast implants (SBIs) and the circulating levels of autoantibodies directed against autonomic nervous system (ANS) receptors. By measuring the titers of various autoantibodies, we found a significant reduction in the levels of certain autoantibodies in the 'Palpitations' group compared to the 'Non' and 'Control' groups. This suggests a possible link between ANS receptor autoantibodies and existing complaints of palpitations in women with SBIs.
IMMUNOLOGIC RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Silke Stertz, Benjamin G. Hale
Summary: Pandemics are caused by novel pathogens due to lack of pre-existing antibody immunity. Studies show that deficiencies in the interferon system components can lead to uncontrolled virus replication and severe illness in some individuals, while autoantibodies neutralizing interferon's antiviral function may increase the risk of severe COVID-19.
TRENDS IN MICROBIOLOGY
(2021)
Article
Rheumatology
Manuel Graf, Sae Lim von Stuckrad, Akinori Uruha, Jens Klotsche, Lydia Zorn-Pauly, Nadine Unterwalder, Thomas Buttgereit, Martin Krusche, Christian Meisel, Gerd R. Burmester, Falk Hiepe, Robert Biesen, Tilmann Kallinich, Werner Stenzel, Udo Schneider, Thomas Rose
Summary: The objective of this study was to evaluate the expression of SIGLEC1 on monocytes as a biomarker for type I interferon activity in idiopathic inflammatory myopathies (IIM). The results showed that SIGLEC1 could distinguish between active and inactive disease and correlated with disease activity longitudinally. SIGLEC1 was also found to be useful for monitoring disease activity and response to treatment in patients with juvenile and adult dermatomyositis.
Review
Immunology
Juan Rivera-Correa, Ana Rodriguez
Summary: Autoimmunity is commonly observed in infections such as malaria and COVID-19, and it is associated with the presence of autoantibodies. The presence of autoantibodies in these diseases has been correlated with associated pathologies and the presence of Atypical/Autoimmune B cells. Recent research has also identified mechanisms and cellular targets that could explain the development of autoantibodies during infection. These findings establish a link between immune responses during infection and autoimmune disorders, providing shared mechanistic insights.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Gudny Ella Thorlacius, Lina Hultin-Rosenberg, Johanna K. Sandling, Matteo Bianchi, Juliana Imgenberg-Kreuz, Pascal Pucholt, Elke Theander, Marika Kvarnstrom, Helena Forsblad-d'Elia, Sara Magnusson Bucher, Katrine B. Norheim, Svein Joar Auglaend Johnsen, Daniel Hammenfors, Kathrine Skarstein, Malin V. Jonsson, Eva Baecklund, Lara A. Aqrawi, Janicke Liaaen Jensen, Oyvind Palm, Andrew P. Morris, Jennifer R. S. Meadows, Solbritt Rantapaa-Dahlqvist, Thomas Mandl, Per Eriksson, Lars Lind, Roald Omdal, Roland Jonsson, Kerstin Lindblad-Toh, Lars Ronnblom, Marie Wahren-Herlenius, Gunnel Nordmark
Summary: The clinical presentation of primary Sjogren's syndrome (pSS) varies widely. A multicentre study identified two patient subgroups based on the presence of SSA/SSB antibodies and genetic markers in the HLA region, with strong association signals found in HLA-DQA1 locus for the antibody-positive subgroup. Replication confirmed the association with MHC class I and II variants, indicating distinct clinical manifestations in pSS subgroups.
Article
Biochemistry & Molecular Biology
Tomislav Bulum, Marijana Vucic Lovrencic, Jadranka Knezevic Cuca, Martina Tomic, Sandra Vuckovic-Rebrina, Lea Duvnjak
Summary: This study aimed to investigate the relationship between three autoantibodies and their combination with anthropometric and metabolic components and microvascular complications in patients with latent autoimmune diabetes in adults (LADA). The results showed that ZnT8 and IA-2 autoantibodies were present in a significant number of LADA patients and associated with clinical and metabolic characteristics resembling classic type 1 diabetes.
Article
Immunology
Jan Willem Cohen Tervaert, Manuel Martinez-Lavin, Luis J. Jara, Gilad Halpert, Abdulla Watad, Howard Amital, Yehuda Shoenfeld
Summary: ASIA syndrome, first described in 2011, is an autoimmune/inflammatory syndrome induced by adjuvants. It aims to uncover the common pathway of autoimmune pathogenesis caused by certain immune stimulatory environmental factors such as aluminum salts, medical implants, and infectious agents.
AUTOIMMUNITY REVIEWS
(2023)
Review
Biochemistry & Molecular Biology
Claudia Sirbe, Gelu Simu, Iulia Szabo, Alina Grama, Tudor Lucian Pop
Summary: Pediatric autoimmune liver disorders encompass autoimmune hepatitis, autoimmune sclerosing cholangitis, and de novo AIH after liver transplantation. The pathogenesis involves genetic variations, environmental factors, and epigenetic modifications. Current first-line therapy includes prednisolone plus azathioprine for clinical and biochemical remission induction.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Immunology
Andrea Farini, Chiara Villa, Luana Tripodi, Mariella Legato, Yvan Torrente
Summary: Muscular dystrophies and inflammatory myopathies are muscular disorders characterized by progressive muscle weakness and mass loss, with shared features of inflammation and immune response. Immune mechanisms involved include complement cascade activation and auto-antibodies directed against muscular proteins.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Biology
Anna Starshinova, Yulia Zinchenko, Anna Malkova, Dmitriy Kudlay, Igor Kudryavtsev, Piotr Yablonskiy
Summary: Currently, sarcoidosis is still a disease of unknown cause, making diagnosis and treatment more complicated. Various factors, both organic and inorganic, have been studied as triggers for granulomatous inflammation. However, the most promising hypothesis is that sarcoidosis is an autoimmune disease triggered by adjuvants in genetically predisposed individuals. This paper discusses the presence of ASIA criteria for sarcoidosis, proposes a new concept of its course within the framework of ASIA, and highlights the challenges in creating a disease model and selecting therapy. The data obtained bring us closer to understanding the nature of sarcoidosis and enable further studies to confirm this hypothesis by developing a disease model.
Review
Biochemistry & Molecular Biology
Aude Magerus, Clara Bercher-Brayer, Frederic Rieux-Laucat
Summary: The dysfunction of the FAS-FASLG pathway leads to Autoimmune lymphoproliferative syndrome (ALPS), primarily caused by FAS mutations. The genetic bases of ALPS are complex, involving both germline and somatic events contributing to the variable clinical manifestations of FAS mutations. Understanding the impact of mutations on the extracellular domain of FAS and the potential digenic inheritance with genetic modifiers can offer insights into the pathogenesis and clinical penetrance of this rare pediatric disease.
BIOMEDICAL JOURNAL
(2021)
Review
Immunology
Giulio Cavalli, Serena Colafrancesco, Giacomo Emmi, Massimo Imazio, Giuseppe Lopalco, Maria Cristina Maggio, Jurgen Sota, Charles A. Dinarello
Summary: IL-1α is a crucial pro-inflammatory cytokine that is present in almost all cell types and plays a central role in the pathogenesis of various organ or tissue inflammatory diseases. Three biologics are available to target and inhibit IL-1α for therapeutic management of these conditions.
AUTOIMMUNITY REVIEWS
(2021)
Article
Rheumatology
Francesco Natalucci, Fulvia Ceccarelli, Enrica Cipriano, Carlo Perricone, Giulio Olivieri, Carmelo Pirone, Giuseppe Mettola, Simona Truglia, Francesca Romana Spinelli, Cristiano Alessandri, Fabrizio Conti
Summary: This study found that joint involvement significantly influences disease-specific quality of life in SLE patients, with the musculoskeletal activity index DAS28 better correlating with LupusQoL domains, highlighting the need for specific musculoskeletal activity indices.
Review
Microbiology
Carlo Perricone, Paola Triggianese, Roberto Bursi, Giacomo Cafaro, Elena Bartoloni, Maria Sole Chimenti, Roberto Gerli, Roberto Perricone
Summary: IVIG, derived from plasma of donors, is used for prevention and treatment of various infections especially in immunocompromised patients, showing anti-viral and anti-inflammatory properties. Its evolution from passive immunity source to immunomodulatory agent has led to extensive applications in autoimmune diseases.
Letter
Rheumatology
Carlo Perricone, Elena Bartoloni, Giacomo Cafaro, Roberto Caporali, Roberto Gerli
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Editorial Material
Rheumatology
Elena Bartoloni, Carlo Perricone, Giacomo Cafaro, Alessia Alunno, Roberto Gerli
Review
Rheumatology
Fulvia Ceccarelli, Francesco Natalucci, Giulio Olivieri, Carlo Perricone, Carmelo Pirone, Francesca Romana Spinelli, Cristiano Alessandri, Fabrizio Conti
Summary: Systemic lupus erythematosus (SLE)-related arthritis, traditionally defined as non-erosive, has been challenged by new imaging techniques showing up to 40% of patients with erosive damage. This more aggressive phenotype was considered in the 2012 classification criteria and 2019 treatment recommendations, with a focus on biomarkers associated with erosive damage in SLE patients.
Article
Immunology
Andrea Latini, Giada De Benedittis, Carlo Perricone, Serena Colafrancesco, Paola Conigliaro, Fulvia Ceccarelli, Maria Sole Chimenti, Lucia Novelli, Roberta Priori, Fabrizio Conti, Cinzia Ciccacci, Paola Borgiani
Summary: The study identified significant associations between three VDR gene polymorphisms and autoimmune connective tissue diseases in the Italian population, suggesting that specific genotypes may influence disease susceptibility and clinical phenotypes.
JOURNAL OF IMMUNOLOGY RESEARCH
(2021)
Article
Medicine, General & Internal
Antonio Marchesoni, Pierluigi Macchioni, Stefania Gasparini, Carlo Perricone, Fabio Massimo Perrotta, Rosa Daniela Grembiale, Ettore Silvagni, Roberta Ramonda, Luisa Costa, Alen Zabotti, Giacomo Curradi, Giuliana Gualberti, Francesca Marando, Carlo Salvarani
Summary: This study evaluated the use of ultrasound examination to distinguish pain from enthesitis in patients with psoriatic arthritis (PsA) and fibromyalgia syndrome (FMS). The results showed that PsA patients had a higher percentage of entheseal changes compared to FMS patients. The ultrasound evaluation can be helpful in differentiating the cause of pain in these patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Fulvia Ceccarelli, Giulio Olivieri, Carmelo Pirone, Cinzia Ciccacci, Licia Picciariello, Francesco Natalucci, Carlo Perricone, Francesca Romana Spinelli, Cristiano Alessandri, Paola Borgiani, Fabrizio Conti
Summary: This study aimed to determine the distribution of organ damage in a cohort of systemic lupus erythematosus (SLE) patients and evaluate the roles of clinical and genetic factors in the development of chronic damage. The results showed that musculoskeletal, neuropsychiatric, and ocular domains were most frequently involved. The presence of damage was associated with age, disease duration, neuropsychiatric manifestations, anti-phospholipid syndrome, and anti-dsDNA positivity. Therapies such as cyclophosphamide, mycophenolate mofetil, and glucocorticoids were also associated with the development of damage. Genetic analysis revealed associations between specific genes (TNFSF4 and MIR1279) and renal and neuropsychiatric damage, respectively.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Rheumatology
Mauro Fatica, Arianna D'Antonio, Lucia Novelli, Paola Triggianese, Paola Conigliaro, Elisabetta Greco, Alberto Bergamini, Carlo Perricone, Maria Sole Chimenti
Summary: This review aims to investigate the pathophysiological mechanisms in spondyloarthritis (SpA). Genetic factors, immunological pathways, and abnormalities of bone metabolism are found to be closely related to the development of axial clinical manifestations in patients. Activation of immunological pathways leads to bone metabolism abnormalities, resulting in various bone anomalies in SpA patients. Treatment of SpA is challenging, but both biological and targeted synthetic drugs show promising efficacy and safety profile.
CURRENT RHEUMATOLOGY REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Giada De Benedittis, Andrea Latini, Serena Colafrancesco, Roberta Priori, Carlo Perricone, Lucia Novelli, Paola Borgiani, Cinzia Ciccacci
Summary: This study found a significant decrease in mtDNA copies in the peripheral blood of Sjogren's syndrome (SS) patients, as well as expression variations in genes related to mitochondrial dynamics. These results provide further insight into the potential involvement of mitochondrial dysfunctions in SS disease.
Review
Health Care Sciences & Services
Mariangela Manfredi, Lieve Van Hoovels, Maurizio Benucci, Riccardo De Luca, Carmela Coccia, Pamela Bernardini, Edda Russo, Amedeo Amedei, Serena Guiducci, Valentina Grossi, Xavier Bossuyt, Carlo Perricone, Maria Infantino
Summary: uPAR is a membrane-bound glycoprotein, and its bioactive form, suPAR, is primarily expressed on the surface of immunologically active cells. Higher levels of suPAR have been associated with disease severity, relapse, and mortality in various inflammatory diseases. This review summarizes the current literature on the potential role of suPAR as a biomarker in autoimmune rheumatic and non-rheumatic diseases.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Rheumatology
A. Colangelo, F. Tromby, G. Cafaro, R. Gerli, E. Bartoloni, C. Perricone
Summary: Adenosine deaminase 2 deficiency is a rare monogenic vasculopathy with diverse clinical manifestations and challenging treatment.
Review
Rheumatology
Lorenza Bruno, Martina Mandarano, Guido Bellezza, Angelo Sidoni, Roberto Gerli, Elena Bartoloni, Carlo Perricone
Summary: Polyangiitis overlap syndrome is a rare clinical entity characterized by overlapping features of multiple vasculitis, typically eosinophilic granulomatosis with polyangiitis (EGPA) and granulomatosis with polyangiitis (GPA). We present a case of a 66-year-old woman with nasal obstruction, external nose deformity, sensorineural hearing loss, eosinophilia, high titer anti-PR3 antibodies and lung involvement, who was successfully treated with cyclophosphamide. Recognition of this entity is crucial due to its distinct clinical phenotype and response to therapy in the complex scenario of ANCA-associated vasculitides.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Medicine, Research & Experimental
Carlo Perricone, Giacomo Cafaro, Elena Fiumicelli, Roberto Bursi, Dimitrios Bogdanos, Ilenia Riccucci, Roberto Gerli, Elena Bartoloni
Summary: This study retrospectively evaluated the predictive factors of sustained remission and flare in patients with polymyalgia rheumatica (PMR). The results showed that female patients and higher baseline prednisone dosage were negative predictors of complete remission at 24 months and were associated with a higher risk of flare.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
