Article
Immunology
Joao Pedro Lopes, Hsi-en Ho, Charlotte Cunningham-Rundles
Summary: Interstitial lung disease (ILD) is a common complication in patients with common variable immunodeficiency (CVID), often associated with bronchiectasis and autoimmunity. Lung biopsy pathology in CVID patients with ILD commonly shows granulomas and lymphoid interstitial pneumonia. Autoimmune manifestations are common, and ILD in CVID can lead to significant mortality, highlighting the need for further research on optimal management strategies.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Allergy
Mojdeh Soltani, Mahnaz Rezaei, Saba Fekrvand, Mazdak Ganjalikhani-Hakemi, Hassan Abolhassani, Reza Yazdani
Summary: Common variable immunodeficiency disorder (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and a wide range of clinical manifestations. Multiple genetic, epigenetic, and immunological defects contribute to the pathogenesis of CVID, including abnormalities in B lymphocytes, T lymphocytes, and other rare immune cells. This review provides the first description of the role of rare immune cells in the pathogenesis and clinical presentations of CVID.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2022)
Article
Immunology
Ali Zarezadeh Mehrabadi, Nazanin Aghamohamadi, Hassan Abolhassani, Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani
Summary: In patients with common variable immunodeficiency (CVID), skin manifestations are not rare, with approximately 40% of patients exhibiting at least one skin disorder. The most common skin complications include skin infections and non-infectious skin lesions. Eczema and vitiligo are the most prevalent complications in atopic and autoimmune/pigmentation disorders, respectively. Deleterious mutations in the LRBA gene are associated with autoimmune and atopic skin lesions.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Atil Bisgin, Ozge Sonmezler, Ibrahim Boga, Mustafa Yilmaz
Summary: NGS of 103 CVID patients identified 112 different rare variants, with 49.1% classified as variants of uncertain significance and 1.8% classified as pathogenic. Rare variants in different genes were found to play a prominent role in disease susceptibility and etiology. However, the frequencies of these variants differed from population frequency databases.
SCIENTIFIC REPORTS
(2021)
Article
Immunology
Fabiana Mascarenhas Souza Lima, Myrthes Toledo-Barros, Venancio Avancini Ferreira Alves, Maria Irma Seixas Duarte, Cleusa Takakura, Carlos Felipe Bernardes-Silva, Ana Karolina Barreto Berselli Marinho, Octavio Grecco, Jorge Kalil, Cristina Maria Kokron
Summary: CVID is an inborn immune disorder that can lead to liver disease, specifically nodular regenerative hyperplasia (NRH). This study compared CVID patients with and without liver-spleen axis abnormalities and analyzed liver and duodenal biopsies to understand the pathophysiology of liver injury. The study found that NRH and lymphocytic infiltration were present in the livers of CVID patients with portal hypertension (PH). Patients with PH were more likely to have lymphadenopathy, elevated beta(2)-microglobulin, low B-lymphocyte counts, and low natural killer-lymphocyte counts.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Saba Fekrvand, Shaghayegh Khanmohammadi, Hassan Abolhassani, Reza Yazdani
Summary: Common variable immunodeficiency (CVID) is a diverse group of immune deficiency diseases characterized by reduced levels of different immunoglobulins. The pathogenesis of CVID involves various genetic and immunological defects, with monogenic defects accounting for a significant proportion. These defects can affect B-cell development and activation, leading to clinical and immunologic manifestations.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Kissy Guevara-Hoyer, Jesus Fuentes-Antras, Eduardo de la Fuente-munoz, Miguel Fernandez-Arquero, Fernando Solano, Pedro Perez-Segura, Esmeralda Neves, Alberto Ocana, Rebeca Perez de Diego, Silvia Sanchez-Ramon
Summary: This study aims to explore the shared genomic basis between common variable immunodeficiency (CVID) and non-Hodgkin's lymphoma (NHL), in order to better understand the immunodeficiency phenotype of CVID in NHL. The study found that NHL samples harbored genetic variants associated with CVID, indicating the existence of shared pathological mechanisms and signaling pathways.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Blanca Garcia-Solis, Ana Den Van Den Rym, Laura Martinez-Martinez, Teresa Franco, Jareb J. Perez-Caraballo, Janet Markle, Carolina Cubillos-Zapata, Ana Marin, Maria J. Recio, Jose R. Regueiro, Alfonso Navarro-Zapata, Carmen Mestre-Duran, Cristina Ferreras, Carla Martin Cotazar, Rocio Mena, Carlos de la Calle-Fabregat, Alberto Lopez-Lera, Miguel Fernandez Arquero, Antonio Perez-Martinez, Eduardo Lopez-Collazo, Silvia Sanchez-Ramon, Jean-Laurent Casanova, Ruben Martinez-Barricarte, Oscar de la Calle-Martin, Rebeca Perez de Diego
Summary: This study investigated a patient with an unknown genetic cause of inborn errors of immunity (IEI) and identified a homozygous missense mutation in the ezrin gene. The mutation resulted in a loss of function of ezrin, which affected the assembly and signaling of cellular and humoral immunity.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maria Giovanna Danieli, Cristina Mezzanotte, Jacopo Umberto Verga, Denise Menghini, Veronica Pedini, Maria Beatrice Bilo, Gianluca Moroncini
Summary: This study evaluated and compared the clinical phenotypes of elderly patients with CVID. The researchers found that autoimmune diseases and neoplasia were more common in elderly patients. All patients received immunoglobulin replacement therapy with good compliance. Future research in this field may help guide care for elderly patients.
Article
Immunology
David A. Sanchez, Karina Rotella, Crhistian Toribio, Matthew Hernandez, Charlotte Cunningham-Rundles
Summary: Common Variable Immunodeficiency (CVID) is a primary immunodeficiency syndrome characterized by defective B cell responses. Gastrointestinal complications are common in CVID and can be caused by infectious pathogens. CVID enteropathy is the most frequent GI diagnosis, while Crohn's disease and ulcerative colitis/proctitis are less common.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Allergy
Rohan Ameratunga, Caroline Allan, Klaus Lehnert, See-Tarn Woon
Summary: Patients with CVID and CVID-like disorders exhibit significant genetic, allelic, and phenotypic heterogeneity, making genetic testing complex. Applying the ACMG criteria to diagnose CVID and CVID-like disorders requires close collaboration between clinicians, bioinformatics, and genetics professionals.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2021)
Article
Immunology
Christina Dahl, Inge Petersen, Frederik V. Ilkjaer, Lena Westh, Terese L. Katzenstein, Ann-Brit E. Hansen, Thyge L. Nielsen, Carsten S. Larsen, Isik S. Johansen, Line D. Rasmussen
Summary: This study aims to investigate whether some diseases diagnosed during outpatient visits or hospital admissions can serve as indicator conditions for the diagnosis of CVID.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Virology
Loa Ottosson, Marie Hagbom, Rikard Svernlov, Sofia Nystrom, Beatrice Carlsson, Mattias Oman, Magnus Strom, Lennart Svensson, Asa Nilsdotter-Augustinsson, Johan Nordgren
Summary: This paper reports a case of chronic norovirus infection and enteropathy in a patient with CVID-like disease, who received immunoglobulin replacement therapy and ribavirin treatment without success in clearing the infection.
Review
Immunology
Heba M. M. Bintalib, Annick van de Ven, Joseph Jacob, Jesper Romhild Davidsen, Borre Fevang, Leif G. G. Hanitsch, Marion Malphettes, Joris van Montfrans, Paul J. J. Maglione, Cinzia Milito, John Routes, Klaus Warnatz, John R. R. Hurst
Summary: This article systematically reviews the use of diagnostic tests for assessing patients with CVID for possible ILD, emphasizing the need for consensus diagnostic criteria to support accurate assessment and monitoring in CVID-ILD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Stefano Rossi, Manuela Baronio, Luisa Gazzurelli, Giulio Tessarin, Giulia Baresi, Marco Chiarini, Daniele Moratto, Raffaele Badolato, Alessandro Plebani, Vassilios Lougaris
Summary: Autoimmunity is a common feature in CVID patients, with hematologic and gastrointestinal manifestations being the most common. CVID patients developing autoimmune cytopenias display characteristic immune phenotypic features.
CLINICAL IMMUNOLOGY
(2022)
Article
Gastroenterology & Hepatology
Stephan Buch, Hamish Innes, Philipp Ludwig Lutz, Hans Dieter Nischalke, Jens U. Marquardt, Janett Fischer, Karl Heinz Weiss, Jonas Rosendahl, Astrid Marot, Marcin Krawczyk, Markus Casper, Frank Lammert, Florian Eyer, Arndt Vogel, Silke Marhenke, Johann von Felden, Rohini Sharma, Stephen Rahul Atkinson, Andrew McQuillin, Jacob Nattermann, Clemens Schafmayer, Andre Franke, Christian Strassburg, Marcella Rietschel, Heidi Altmann, Stefan Sulk, Veera Raghavan Thangapandi, Mario Brosch, Carolin Lackner, Rudolf E. Stauber, Ali Canbay, Alexander Link, Thomas Reiberger, Mattias Mandorfer, Georg Semmler, Bernhard Scheiner, Christian Datz, Stefano Romeo, Stefano Ginanni Corradini, William Lucien Irving, Joanne R. Morling, Indra Neil Guha, Eleanor Barnes, M. Azim Ansari, Jocelyn Quistrebert, Luca Valenti, Sacha A. Mueller, Marsha Yvonne Morgan, Jean-Francois Dufour, Jonel Trebicka, Thomas Berg, Pierre Deltenre, Sebastian Mueller, Jochen Hampe, Felix Stickel
Summary: This study identifies rs2242652 in TERT as a novel protective factor for HCC in patients with alcohol-related cirrhosis.
Article
Gastroenterology & Hepatology
Julia Schroeder, Laura Chegwidden, Carlo Maj, Jan Gehlen, Jan Speller, Anne C. Boehmer, Oleg Borisov, Timo Hess, Nicole Kreuser, Marino Venerito, Hakan Alakus, Andrea May, Christian Gerges, Thomas Schmidt, Rene Thieme, Dominik Heider, Axel M. Hillmer, Julian Reingruber, Orestis Lyros, Arne Dietrich, Albrecht Hoffmeister, Matthias Mehdorn, Florian Lordick, Gertraud Stocker, Michael Hohaus, Daniel Reim, Jennis Kandler, Michaela Mueller, Alanna Ebigbo, Claudia Fuchs, Christiane J. Bruns, Arnulf H. Holscher, Hauke Lang, Peter P. Grimminger, Dani Dakkak, Yogesh Vashist, Sandra May, Siegfried Gorg, Andre Franke, David Ellinghaus, Sara Galavotti, Lothar Veits, Josef Weismuller, Jens Dommermuth, Udo Benner, Thomas Roesch, Helmut Messmann, Brigitte Schumacher, Horst Neuhaus, Carsten Schmidt, Thaddaus T. Wissinowski, Markus M. Noethen, Jing Dong, Jue-Sheng Ong, Matthew F. Buas, Aaron P. Thrift, Thomas L. Vaughan, Ian Tomlinson, David C. Whiteman, Rebecca Claire Fitzgerald, Janusz Jankowski, Michael Vieth, Andreas Mayr, Puya Gharahkhani, Stuart MacGregor, Ines Gockel, Claire Palles, Johannes Schumacher
Summary: This study utilized GWAS, genetic correlation analysis, and polygenic risk modeling to investigate the genetic causes of BE/EA. The findings identified new risk loci and candidate genes associated with BE/EA development. The study also revealed differences in the etiology of BE and EA and demonstrated improved risk prediction models when combining PRS with risk factors. These findings provide valuable insights into the mechanisms underlying BE/EA and improve our understanding of the disease.
Article
Gastroenterology & Hepatology
Muyiwa Awoniyi, Jeremy Wang, Billy Ngo, Vik Meadows, Jason Tam, Amba Viswanathan, Yunjia Lai, Stephanie Montgomery, Morgan Farmer, Martin Kummen, Louise Thingholm, Christoph Schramm, Corinna Bang, Andre Franke, Kun Lu, Huiping Zhou, Jasmohan S. Bajaj, Phillip B. Hylemon, Jenny Ting, Yury Popov, Johannes Roksund Hov, Heather L. Francis, Ryan Balfour Sartor
Summary: By studying the microbial composition in germ-free and antibiotic-treated mice and PSC patients, we identified different bacterial species with functional protective and detrimental effects in these animals and patients, which are associated with clinical risk scores. These findings are important for the development of personalized therapeutic approaches.
Article
Sport Sciences
Anne Hecksteden, Georges Pierre Schmartz, Yanni Egyptien, Karen Aus der Fuenten, Andreas Keller, Tim Meyer
Summary: This study aimed to forecast non-contact time-loss injuries in professional male football using machine learning techniques. The results showed promising performance of the gradient boosted model in predicting injuries, with potential for generalizability to new cases. However, the relatively low number of events highlights the need for external validation and model development.
SCIENCE AND MEDICINE IN FOOTBALL
(2023)
Article
Gastroenterology & Hepatology
Timur Liwinski, Sina Huebener, Lara Henze, Peter Huebener, Melina Heinemann, Marcus Tetzlaff, Marie Hiller, Bettina Jagemann, Rambabu Surabattula, Diana Leeming, Morten Karsdal, Erika Monguzzi, Guido Schachschal, Thomas Roesch, Corinna Bang, Andre Franke, Ansgar W. Lohse, Detlef Schuppan, Christoph Schramm
Summary: This study suggests that a short-term gluten/ATI-free diet may not lead to clinical improvement in patients with PSC-IBD, but it can improve biomarkers of intestinal inflammation and barrier function, as well as affect changes in the enteric microbiota.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Letter
Gastroenterology & Hepatology
Lukas Michaja Balsiger, Karen Van den Houte, Tenghao Zheng, Joran Toth, Linde Besard, Andre Franke, Mauro D'Amato, Jan Tack, Florencia Carbone
Article
Clinical Neurology
Nils G. Margraf, Justina Dargvainiene, Emily Theel, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Klaus Berger, Jens Kuhle, Gregor Kuhlenbaeumer
Summary: This study investigates the potential of neurofilament light chain (NfL) in serum and cerebrospinal fluid as a biomarker for neurodestruction in status epilepticus. The results suggest that the concentration of NfL is mainly determined by the duration of status epilepticus, rather than the type of status or treatment refractoriness.
JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
H. O. Heyne, J. Karjalainen, K. J. Karczewski, S. M. Lemmela, W. Zhou, A. S. Havulinna, M. Kurki, H. L. Rehm, A. Palotie, M. J. Daly
Summary: Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics. This study utilizes the history of the Finnish population and finds that population bottleneck events enrich some homozygous variants to higher frequencies, facilitating the identification of variants that cause diseases with recessive inheritance. The results show associations for homozygous genotypes across a broad spectrum of phenotypes, including known associations and novel associations.
Article
Genetics & Heredity
Arunabh Sharma, Olaf Junge, Silke Szymczak, Malte Christoph Ruehlemann, Janna Enderle, Stefan Schreiber, Matthias Laudes, Andre Franke, Wolfgang Lieb, Michael Krawczak, Astrid Dempfle
Summary: Inflammatory bowel disease (IBD) is a disease characterized by an imbalance of the gut microbiome. This study used modules identified in microbial co-occurrence networks to measure the consistency of microbial abundance and performed a genome-wide quantitative trait locus (QTL) linkage analysis. The analysis identified new genetic drivers of microbiome composition in the context of IBD.
FRONTIERS IN GENETICS
(2023)
Article
Biochemical Research Methods
Anna-Maria Liebhoff, Kevin Menden, Alena Laschtowitz, Andre Franke, Christoph Schramm, Stefan Bonn
Summary: Pathonoia is an algorithm that detects viruses and bacteria in RNA sequencing data with high precision and recall, and provides an easy-to-use analysis framework to highlight potential microbe-host interactions.
BMC BIOINFORMATICS
(2023)
Article
Clinical Neurology
Yasmine Sommerer, Valerija Dobricic, Marcel Schilling, Olena Ohlei, Sanaz Sedghpour Sabet, Tanja Wesse, Janina Fuss, Soeren Franzenburg, Andre Franke, Laura Parkkinen, Christina M. Lill, Lars Bertram
Summary: This study conducted an epigenome-wide association study (EWAS) using DNAm profiles in entorhinal cortex (EC) from AD patients and control brains, and found several genomic loci associated with disease onset and progression. By integrating DNAm levels with mRNA expression data, significant correlations were observed for 6 of the significant CpGs. Additionally, accelerated epigenetic aging was found in the brains of AD patients compared to controls.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Immunology
Hesham ElAbd, Petra Bacher, Andreas Tholey, Tobias L. Lenz, Andre Franke
Summary: The HLA proteins play a crucial role in adaptive immunity by presenting self and foreign peptides to T cells. Genetic variation in the HLA region is associated with many complex diseases, highlighting the importance of specific HLA-presented peptides in disease etiology. Identifying the immunopeptidome, the set of peptides presented by an individual's HLA proteins in vivo, has garnered increasing attention for various reasons, such as cancer immunotherapy, vaccine development, and understanding autoimmunity. Despite significant progress, there are still unanswered questions and challenges in peptide presentation analysis and T cell immunogenicity. Addressing these challenges would enhance our understanding of disease etiology and lead to advancements in vaccine engineering and immunotherapy.
FRONTIERS IN IMMUNOLOGY
(2023)
Correction
Cardiac & Cardiovascular Systems
Verena Limperger, Gili Kenet, Bettina Kiesau, Max Koether, Malin Schmeiser, Florian Langer, David Juhl, Maria Shneyder, Andre Franke, Ulrich C. Klostermeier, Rolf Mesters, Frank Ruehle, Monika Stoll, Dagmar Steppat, Dorothee Kowalski, Angela Rocke, Piotr Kuta, Tido Bajorat, Antje Torge, Bruno Neuner, Ralf Junker, Ulrike Nowak-Goettl
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2023)
Article
Biochemistry & Molecular Biology
Pascal Hirsch, Azat Tagirdzhanov, Aleksandra Kushnareva, Ilia Olkhovskii, Simon Graf, Georges P. Schmartz, Julian D. Hegemann, Kenan A. J. Bozhueyuek, Rolf Mueller, Andreas Keller, Alexey Gurevich
Summary: ABC-HuMi is an atlas of biosynthetic gene clusters (BGCs) in the human microbiome, integrating data from major human microbiome sequence databases and providing accurate annotation and enhanced prediction capabilities. This database empowers researchers to efficiently explore and discover novel bioactive compounds.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Matthias Flotho, Jeremy Amand, Pascal Hirsch, Friederike Grandke, Tony Wyss-Coray, Andreas Keller, Fabian Kern
Summary: The molecular causes and mechanisms of neurodegenerative diseases are still not well understood. This study introduces ZEBRA, a large single-cell and single-nucleus RNA-seq database, which integrates gene expression and metadata from multiple studies to enhance our understanding of mammalian brain function during aging and disease.
NUCLEIC ACIDS RESEARCH
(2023)