Article
Rheumatology
Marianna Mitratza, Bart Klijs, A. Elisabeth Hak, Jan W. P. F. Kardaun, Anton E. Kunst
Summary: This study aimed to assess the mortality rate of systemic autoimmune diseases (SAIDs) and found that SAIDs contribute to mortality through multiple comorbidities, with particularly strong associations with diseases of the musculoskeletal system, genitourinary system, and influenza.
Review
Immunology
Ilaria Mormile, Francesca Mosella, Piergiorgio Turco, Filomena Napolitano, Amato de Paulis, Francesca Wanda Rossi
Summary: Calcinosis is a severe complication of autoimmune disorders, including types like calcinosis cutis and calciphylaxis. Calcification of damaged tissues in the presence of normal calcium and phosphate levels is commonly associated with autoimmune diseases. Calciphylaxis, characterized by vascular calcifications and thrombosis, is also related to autoimmune conditions. It is important for physicians to be aware of the clinical presentation and management of calcinosis in order to choose appropriate treatment and prevent long-term complications.
Article
Rheumatology
Gelsy Arianna Lupoli, Marco Tasso, Luisa Costa, Francesco Caso, Raffaele Scarpa, Antonio Del Puente, Rosario Peluso
Summary: The study found that about one-third of patients with Hashimoto's thyroiditis have joint involvement, but the prevalence of inflammatory arthropathy is only 8.33%. Additionally, 34.26% of patients have other coexisting autoimmune disorders, with a significant prevalence of celiac disease.
Review
Microbiology
Eric M. Brown, Jon Clardy, Ramnik J. Xavier
Summary: Metabolites from commensal gut microbes have significant impacts on host health through immune recognition and modulation of various metabolic pathways. The gut microbiota plays a dual role in transforming and synthesizing lipids, as well as breaking down dietary lipids to generate secondary metabolites with host regulatory properties. Recent research has highlighted the signaling activities of lipids, which have potential effects on host health and physiology. This review focuses on the functions of bioactive lipids in mammalian physiology, with a particular emphasis on immunity and metabolism.
CELL HOST & MICROBE
(2023)
Article
Endocrinology & Metabolism
Clemens Kamrath, Sascha R. Tittel, Desiree Dunstheimer, Elke Froehlich-Reiterer, Markus Freff, Claudia Boettcher, Nadine Scheffler, Stefanie Lenze, Elke Gericke, Susanne Thiele, Reinhard W. Holl
Summary: The study aims to analyze whether the confirmation of coeliac disease can be postponed in children with new-onset type 1 diabetes and positive screening results.
Article
Gastroenterology & Hepatology
Laura Conti, Gloria Galli, Chiara Ligato, Marilia Carabotti, Bruno Annibale, Edith Lahner
Summary: The aim of this study was to assess the frequency of autoimmune atrophic gastritis (AAG) and coeliac disease (CD) association and compare the clinical, biochemical, and histological features of adults affected by both diseases. The results showed that the association between AAG and CD is rare, with a prevalence of 2% in AAG patients with CD. Adults with both AAG and CD were younger and had a higher prevalence of normocytic anaemia compared to those with AAG only.
DIGESTIVE AND LIVER DISEASE
(2023)
Article
Pediatrics
Francesco Saettini, Alessandro Cattoni, Martina Redaelli, Daniela Silvestri, Giulia Maria Ferrari, Andrea Biondi, Momcilo Jankovic, Marco Spinelli
Summary: The study found that the prevalence of autoimmune hyperthyroidism, systemic lupus erythematosus, and coeliac disease in children with immune thrombocytopenia was not increased compared to the general pediatric population. However, the prevalence of underlying primary immunodeficiencies was significantly higher. Regular screening for primary immunodeficiencies during follow-up of immune thrombocytopenia patients is recommended.
Editorial Material
Medicine, General & Internal
N. Greco, A. Meacci, B. Mora, A. Vestri, A. Picarelli
Summary: This study examined the clinical status, psychological effects, and management of the gluten-free diet in coeliac patients during the COVID-19 pandemic. The results showed that most patients did not consider themselves vulnerable to COVID-19 and had no difficulties in managing the gluten-free diet. The study also suggested that the HLA DQ2 and/or DQ8 haplotype may play a protective role against SARS-CoV-2 infection.
ANNALS OF MEDICINE
(2022)
Review
Endocrinology & Metabolism
Nicole Lafontaine, Scott G. Wilson, John P. Walsh
Summary: This review summarizes the current understanding of DNA methylation (DNAm) in autoimmune thyroid disease (AITD), highlighting differential DNAm in several genes implicated in AITD. However, further replication and functional studies are needed to support the causal roles of these differential DNAm in AITD pathogenesis. Additionally, the influence of thyroid hormones on DNAm and the confounding effects of reverse causation need to be considered. Recent studies suggest a potential mechanism for the association between iodine and AITD through differential DNAm patterns in candidate genes. The research focus is shifting towards epigenome-wide studies to elucidate the role of DNAm in AITD and identify diagnostic, prognostic, and therapeutic targets.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Clinical Neurology
Rosa Peraita-Adrados, Miguel Fernandez-Arquero, Francisco-Javier Martinez-Orozco
Summary: The aim of this study was to report a case of a woman with narcolepsy type 1 co-morbid with asymptomatic primary biliary cholangitis (PBC). The important clinical message of this case is the need to monitor adults with narcolepsy type 1 for late complications associated with other autoimmune conditions. Clinicians should be aware of the relationship between narcolepsy and PBC, and screening and management in these individuals is necessary.
Article
Pathology
Lik Wee Lee, Shahin Shafiani, Beryl Crossley, Ryan O. Emerson, David Williamson, Anna Bunin, Justin Vargas, Arnold S. Han, Ian M. Kaplan, Peter H. R. Green, Ilan Kirsch, Govind Bhagat
Summary: Research on sequencing T-cell receptor genes in the small intestine of patients with celiac disease reveals changes associated with the disease, including increased frequency of rearranged T-cell receptors and higher abundance of specific amino acid sequences.
JOURNAL OF CLINICAL PATHOLOGY
(2022)
Article
Immunology
Tiffany E. Gooden, Mike Gardner, Jingya Wang, Kate Jolly, Deirdre A. Lane, Laura A. Benjamin, Henry C. Mwandumba, Vanessa Kandoole, Isaac B. Lwanga, Stephen Taylor, Semira Manaseki-Holland, Gregory Y. H. Lip, Krishnarajah Nirantharakumar, G. Neil Thomas
Summary: People with HIV are at increased risk for cardiovascular disease and common risk factors, highlighting the importance of regular screening for these conditions.
JOURNAL OF INFECTIOUS DISEASES
(2022)
Article
Medicine, General & Internal
Rabia Khan, M. Ellen Kuenzig, Furong Tang, James H. B. Im, Jessica Widdifield, Jeffrey D. Mccurdy, Gilaad G. Kaplan, Eric I. Benchimol
Summary: This study investigated the risk of venous thromboembolisms (VTEs) in individuals with Immune-mediated inflammatory diseases (IMIDs) following COVID-19 infection. The study found that individuals with IMIDs did not have a higher risk of VTE compared to those without IMIDs.
Review
Immunology
Fang Liang, Weixiao Qin, Yilan Zeng, Dan Wang
Summary: Autoimmune diseases and autoinflammatory diseases are two types of immune system disorders, and pyroptosis plays a crucial role in these diseases. Gasdermins, a pore-forming protein mainly expressed in immune cells, gastrointestinal tract, and skin, are considered as the executors of pyroptosis and have various functions and pathological effects such as pro-inflammatory responses, immune activation, and tumor mediation. Recent studies have demonstrated the significant role of gasdermins in autoimmune diseases, autoinflammatory diseases, and immune-related neoplastic diseases, making them potential therapeutic targets for immune disorders.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Jin Bu, Ruilian Ding, Liangjia Zhou, Xiangming Chen, Erxia Shen
Summary: Psoriasis is a chronic autoimmune inflammatory disease that affects not only the skin, but also other systems of the body and mental health. Recent studies have shown associations between psoriasis and various systemic diseases, including the skin system, reproductive system, and oral and ocular systems, as well as mental health diseases, due to a shared immune-inflammatory mechanism. This review summarizes epidemiological evidence from the past 5 years, supporting the association between psoriasis and important and/or newly reported systemic diseases, aiming to improve the management of people with psoriasis.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Simone J. C. F. M. Moorlag, Vasiliki Matzaraki, Jelmer H. van Puffelen, Charlotte van der Heijden, Sam Keating, Laszlo Groh, Rutger Jan Roring, Olivier B. Bakker, Valerie A. C. M. Koeken, L. Charlotte J. de Bree, Sanne P. Smeekens, Marije Oosting, Raul Aguirre Gamboa, Niels P. Riksen, Ramnik J. Xavier, Cisca Wijmenga, Vinod Kumar, Reinout van Crevel, Boris Novakovic, Leo A. B. Joosten, Yang Li, Mihai G. Netea
Summary: Innate immune cells can develop memory characteristics through trained immunity. Host factors that affect the intensity of individual trained immunity responses are still largely unknown. This study identified key genes that influence trained immunity responses and highlighted the important roles of metabolic and epigenetic processes in regulating these responses.
EUROPEAN JOURNAL OF IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Esteban A. Lopera-Maya, Alexander Kurilshikov, Adriaan van der Graaf, Shixian Hu, Sergio Andreu-Sanchez, Lianmin Chen, Arnau Vich Vila, Ranko Gacesa, Trishla Sinha, Valerie Collij, Marjiolein A. Y. Klaassen, Laura A. Bolte, Milla F. Brandao Gois, Pieter B. T. Neerincx, Morris A. Swertz, Hermie J. M. Harmsen, Cisca Wijmenga, Jingyuan Fu, Rinse K. Weersma, Alexandra Zhernakova, Serena Sanna
Summary: Host genetics influence the gut microbiome, with the LCT and ABO genes showing significant associations with microbial composition and function. The associations at the LCT locus are modulated by lactose intake, while those at ABO can be explained by participant secretor status determined by their FUT2 genotype. Further loci also show potential associations with microbial taxa and pathways. Larger sample sizes are needed to fully understand the effects of host genetics on the gut microbiome.
Article
Cell Biology
Anastasia Gulyaeva, Sanzhima Garmaeva, Renate A. A. A. Ruigrok, Daoming Wang, Niels P. Riksen, Mihai G. Netea, Cisca Wijmenga, Rinse K. Weersma, Jingyuan Fu, Arnau Vich Vila, Alexander Kurilshikov, Alexandra Zhernakova
Summary: In this study, gut metagenomic data from 1,950 individuals in the Netherlands were analyzed to explore the diversity and functional role of crAss-like phages in human populations. The researchers identified 1,556 crAss-like phage genomes and predicted their hosts to be bacteria of the phylum Bacteroidetes. The study also discovered striking divergent regions in the transcriptional regions of closely related crAss-like phages and explored the temporal stability of these phages over a 4-year period, finding associations between their abundance and several human phenotypes.
Article
Multidisciplinary Sciences
R. Gacesa, A. Kurilshikov, A. Vich Vila, T. Sinha, M. A. Y. Klaassen, L. A. Bolte, S. Andreu-Sanchez, L. Chen, V. Collij, S. Hu, J. A. M. Dekens, V. C. Lenters, J. R. Bjork, J. C. Swarte, M. A. Swertz, B. H. Jansen, J. Gelderloos-Arends, S. Jankipersadsing, M. Hofker, R. C. H. Vermeulen, S. Sanna, H. J. M. Harmsen, C. Wijmenga, J. Fu, A. Zhernakova, R. K. Weersma
Summary: This study analyzed the gut microbiome of 8,208 individuals from the Netherlands and found that the microbiome is primarily shaped by the environment and cohabitation. Only about 6.6% of microbial taxa are heritable, while around 48.6% of taxa are significantly influenced by cohabitation. Additionally, the study identified numerous associations between the microbiome and health, diet, socioeconomic factors, and early-life and current exposome.
Article
Biology
Xiaojing Chu, Anna W. M. Janssen, Hans Koenen, Linzhung Chang, Xuehui He, Irma Joosten, Rinke Stienstra, Yunus Kuijpers, Cisca Wijmenga, Cheng-Jian Xu, Mihai G. Netea, Cees J. Tack, Yang Li, Christoph Buettner
Summary: This study reveals that genetic variants significantly affect T cell composition and susceptibility to type 1 diabetes (T1D). Specifically, the CCR5+ regulatory T cells are associated with T1D through the CCR region, suggesting a shared genetic regulation. In addition, 15 genetic loci that influence immune responses in T1D were identified, including 12 loci that have never been reported in healthy population studies, implying a disease-specific genetic regulation.
Article
Immunology
Aaron D. Ramirez-Sanchez, Xiaojing Chu, Rutger Modderman, Yvonne Kooy-Winkelaar, Sibylle Koletzko, Ilma R. Korponay-Szabo, Riccardo Troncone, Cisca Wijmenga, Luisa Mearin, Sebo Withoff, Iris H. Jonkers, Yang Li
Summary: This study used single-cell RNA sequencing to analyze blood samples from children and identify biomarkers for celiac disease. Differential gene expression profiles were observed in specific cell types before and after disease development. The study also identified genes and pathways associated with CD4+ T cells and NK cells, which could potentially serve as biomarkers for early diagnosis of celiac disease.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Gastroenterology & Hepatology
Zlatan Mujagic, Melpomeni Kasapi, Daisy M. A. E. Jonkers, Isabel Garcia-Perez, Lisa Vork, Zsa Zsa R. M. Weerts, Jose Ivan Serrano-Contreras, Alexandra Zhernakova, Alexander Kurilshikov, Jamie Scotcher, Elaine Holmes, Cisca Wijmenga, Daniel Keszthelyi, Jeremy K. Nicholson, Joram M. Posma, Ad A. M. Masclee
Summary: Combining microbiome and metabolome data can distinguish between irritable bowel syndrome (IBS) patients and healthy controls. Unsupervised clustering based on fecal microbiome-metabolome data revealed distinct subsets of IBS patients. The study also found associations between altered serotonin metabolism, unfavorable stress response related to gastrointestinal symptoms, and IBS, supporting the importance of the microbiome-gut-brain axis in the pathogenesis of IBS.
Correction
Genetics & Heredity
Esteban A. Lopera-Maya, Alexander Kurilshikov, Adriaan van der Graaf, Shixian Hu, Sergio Andreu-Sanchez, Lianmin Chen, Arnau Vich Vila, Ranko Gacesa, Trishla Sinha, Valerie Collij, Marjiolein A. Y. Klaassen, Laura A. Bolte, Milla F. Brandao Gois, Pieter B. T. Neerincx, Morris A. Swertz, Hermie J. M. Harmsen, Cisca Wijmenga, Jingyuan Fu, Rinse K. Weersma, Alexandra Zhernakova, Serena Sanna
Article
Medicine, General & Internal
Cassandra L. R. van Doorn, Clare Eckold, Katharina Ronacher, Rovina Ruslami, Suzanne van Veen, Ji-Sook Lee, Vinod Kumar, Sarah Kerry-Barnard, Stephanus T. Malherbe, Leanie Kleynhans, Kim Stanley, Philip C. Hill, Simone A. Joosten, Reinout van Crevel, Cisca Wijmenga, Julia A. Critchley, Gerhard Walzl, Bachti Alisjahbana, Marielle C. Haks, Hazel M. Dockrell, Tom H. M. Ottenhoff, Eleonora Vianello, Jacqueline M. Cliff
Summary: The study found that the analysis of patients' whole blood transcriptional profiles can predict treatment failure or success in tuberculosis, even in patients with diabetes mellitus.
Article
Biology
Sergio Andreu-Sanchez, Geraldine Aubert, Aida Ripoll-Cladellas, Sandra Henkelman, Daria Zhernakova, Trishla Sinha, Alexander Kurilshikov, Maria Carmen Cenit, Marc Jan Bonder, Lude Franke, Cisca Wijmenga, Jingyuan Fu, Monique G. P. van der Wijst, Marta Mele, Peter Lansdorp, Alexandra Zhernakova
Summary: This study reveals the cell-type-specific differences in telomere biology in humans and its relationship with gene expression, epigenetic signals mediated by parental phenotypes, and expression changes at the single cell level. It confirms the role of perinatal factors in determining telomere lengths, and highlights the influence of genetics, lifestyle, and other factors on this variation.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Lianmin Chen, Daria Zhernakova, Alexander Kurilshikov, Sergio Andreu-Sanchez, Daoming Wang, Hannah E. Augustijn, Arnau Vich Vila, Rinse K. Weersma, Marnix H. Medema, Mihai G. Netea, Folkert Kuipers, Cisca Wijmenga, Alexandra Zhernakova, Jingyuan Fu
Summary: The study analyzed a large number of individuals to reveal the influence of an individual's genetics, diet, and gut microbiome on their plasma metabolome, and used Mendelian randomization and mediation analyses to unveil causal relationships between them.
Article
Cell Biology
J. Casper Swarte, Yanni Li, Shixian Hu, Johannes R. Bjork, Ranko Gacesa, Arnau Vich Vila, Rianne M. Douwes, Valerie Collij, Alexander Kurilshikov, Adrian Post, Marjolein A. Y. Klaassen, Michele F. Eisenga, Antonio W. Gomes-Neto, Daan Kremer, Bernadien H. Jansen, Tim J. Knobbe, Stefan P. Berger, Jan-Stephan F. Sanders, M. Rebecca Heiner-Fokkema, Robert J. Porte, Frans J. C. Cuperus, Vincent E. de Meijer, Cisca Wijmenga, Eleonora A. M. Festen, Alexandra Zhernakova, Jingyuan Fu, Hermie J. M. Harmsen, Hans Blokzijl, Stephan J. L. Bakker, Rinse K. Weersma
Summary: This study analyzed fecal samples from liver and kidney transplant recipients and found that dysbiosis of the gut microbiome is associated with decreased survival rates after transplantation, as well as the use of immunosuppressive drugs. This research provides a foundation for potential microbiome-targeted interventions that could impact the outcomes of solid organ transplantation recipients.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Review
Genetics & Heredity
Victoria E. J. M. Palasantzas, Isabel Tamargo-Rubio, Kieu Le, Jelle Slager, Cisca Wijmenga, Iris H. Jonkers, Vinod Kumar, Jingyuan Fu, Sebo Withoff
Summary: Genome-wide association studies (GWAS) have identified numerous genetic variants associated with complex genetic diseases and drug efficacy. However, functional characterization of these variants is challenging due to the lack of human model systems. Organ-on-a-chip (OoC) platforms, enabled by advances in molecular and nanotechnology, provide personalized platforms for studying the impact of genetics and environment on organ physiology. This review highlights the technology and showcases the potential of OoCs in disease modeling and pharmacogenetic research.
TRENDS IN GENETICS
(2023)
Meeting Abstract
Gastroenterology & Hepatology
Shixian Hu, J. Casper Swarte, Yanni Li, Johannes Bjork, Ranko Gacesa, Arnau Vich Vila, Rianne Douwes, Valerie Collij, Alexander Kurilshikov, Aadrian Post, Marjolein A. Y. Klaassen, Michele F. Eisenga, Antonio W. Gomes-Neto, Daan Kremer, Bernadien H. Jansen, Tim J. Knobbe, Stefan P. Berger, Jan-Stephan F. Sanders, M. Rebecca Heiner-Fokkema, Robert J. Porte, Frans J. C. Cuperus, Vincent E. Demeijer, Cisca Wijmenga, Eleonora A. M. Festen, Alexandra Zhernakova, Jingyuan Fu, Hermie J. M. Harmsen, Hans Blokzijl, Stephan J. L. Bakker, Rinse Weersma
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Esteban A. Lopera-Maya, Alexander Kurilshikov, Adriaan van der Graaf, Shixian Hu, Sergio Andreu-Sanchez, Lianmin Chen, Arnau Vich-Vila, Ranko Gacesa, Trishla Sinha, Valerie Collij, Marjolein A. Y. Klassen, Laura A. Bolte, Milla F. Brandao-Gois, Pieter B. T. Neerincx, Morris A. Swertz, Hermie J. M. Harmsen, Cisca Wijmenga, Jingyuan Fu, Rinse K. Weersma, Alexandra Zhernakova, Serena Sanna
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)