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Results: 43
Diagnosis of insulin autoimmune syndrome using polyethylene glycol precipitation and gel filtration chromatography with ex vivo insulin exchange.
David Church, Luís Cardoso, Sonia Bradbury, Catriona Clarke, Anna Stears, Anna Dover, David Halsall, Robert Semple
Oct 24, 2016
Resolving $\textit{TYK2}$ locus genotype-to-phenotype differences in autoimmunity
CA Dendrou, A Cortes, L Shipman, HG Evans, KE Attfield, L Jostins, T Barber, G Kaur, SB Kuttikkatte, OA Leach, C Desel, SL Faergeman, J Cheeseman, MJ Neville, S Sawcer, A Compston, AR Johnson, C Everett, JI Bell, F Karpe, M Ultsch, C Eigenbrot, G McVean, L Fugger
Feb 23, 2017
Animals Autoimmune Diseases Autoimmunity CD4-Positive T-Lymphocytes Cytokines Epigenesis Genetic Female Genetic Association Studies genetic variation Genomics Genotype HEK293 Cells Homozygote Humans Immune System Janus Kinase 2 Leukocytes Mononuclear Male Mice Mutation Missense Phenotype Polymorphism Single Nucleotide Protein Conformation Quantitative Trait Loci Recombination Genetic Sequence Analysis RNA Signal Transduction TYK2 Kinase Transcriptome
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa, AL Mann, D Mead, H Bouman, F Riveros-Mckay, MA Kostadima, JJ Lambourne, S Sivapalaratnam, K Downes, K Kundu, L Bomba, K Berentsen, JR Bradley, LC Daugherty, O Delaneau, SF Garner, L Grassi, M Haimel, EM Janssen-Megens, A Kaan, M Kamat, B Kim, A Mandoli, J Marchini, K Freson, J Guerrero, J Marchini, JHA Martens, S Meacham, K Megy, J O'Connell, R Petersen, N Sharifi, SM Sheard, JR Staley, S Tuna, M van der Ent, K Walter, S-Y Wang, E Wheeler, SP Wilder, V Iotchkova, C Moore, J Sambrook, HG Stunnenberg, E Di Angelantonio, S Kaptoge, TW Kuijpers, E Carrillo-de-Santa-Pau, D Juan, D Rico, A Valencia, L Chen, B Ge, L Vasquez, T Kwan, D Garrido-Martín, S Watt, Y Yang, R Guigo, S Beck, DS Paul, T Pastinen, D Bujold, G Bourque, M Frontini, J Danesh, DJ Roberts, WH Ouwehand, AS Butterworth, N Soranzo
Jan 16, 2017
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.
Ana Márquez, Martin Kerick, Alexandra Zhernakova, Javier Gutierrez-Achury, Wei-Min Chen, Suna Onengut-Gumuscu, Isidoro González-Álvaro, Luis Rodriguez-Rodriguez, Raquel Rios-Fernández, Miguel A González-Gay, Coeliac Disease Immunochip Consortium, Rheumatoid Arthritis Consortium International for Immunochip (RACI), International Scleroderma Group, Type 1 Diabetes Genetics Consortium, Maureen D Mayes, Soumya Raychaudhuri, Stephen S Rich, Cisca Wijmenga, Javier Martín
Feb 18, 2019
BACKGROUND: In recent years, research has consistently proven the occurrence of genetic overlap across autoimmune diseases, which supports the existence of common pathogenic mechanisms in autoimmunity. The objective of this...
Autoimmune Disease functional enrichment analysis Celiac disease Cross-disease meta-analysis Immunochip rheumatoid arthritis systemic sclerosis type 1 diabetes Arthritis Rheumatoid Autoimmune Diseases Celiac disease Diabetes mellitus Type 1 Genetic Predisposition to Disease Genome-Wide Association Study Humans Molecular Sequence Annotation Polymorphism Single Nucleotide Scleroderma Systemic
Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk.
Qin Qin Huang, Howard HF Tang, Shu Mei Teo, Danny Mok, Scott C Ritchie, Artika P Nath, Marta Brozynska, Agus Salim, Andrew Bakshi, Barbara J Holt, Chiea Chuen Khor, Peter D Sly, Patrick G Holt, Kathryn E Holt, Michael Inouye
Aug 25, 2020
Chronic immune-mediated diseases of adulthood often originate in early childhood. To investigate genetic associations between neonatal immunity and disease, we map expression quantitative trait loci (eQTLs) in resting myeloid...
Autoimmune Diseases Butyrophilins CD4-Positive T-Lymphocytes Cathepsin H Child Child Development Child Preschool Datasets as Topic Fetal Blood Gene Expression Profiling Gene Expression Regulation Developmental Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study HLA-C Antigens Humans Hypersensitivity Infant Infant Newborn Mendelian Randomization Analysis Myeloid Cells Oligonucleotide Array Sequence Analysis Polymorphism Single Nucleotide Prospective Studies Quantitative Trait Loci
The Risk of Severe Infections Following Rituximab Administration in Patients With Autoimmune Kidney Diseases
Balazs Odler, Martin Windpessl, Marcell Krall, Maria Steiner, Regina Riedl, Carina Hebesberger, Martin Ursli, Emanuel Zitt, Karl Lhotta, Marlies Antlanger, Daniel Cejka, Philipp Gauckler, Martin Wiesholzer, Marcus Saemann, Alexander R Rosenkranz, Kathrin Eller, Andreas Kronbichler
Nov 22, 2021
OBJECTIVE: To characterize the incidence, type, and risk factors of severe infections (SI) in patients with autoimmune kidney diseases treated with rituximab (RTX). METHODS: We conducted a multicenter retrospective cohort study...
glomerular disease Infections lupus nephritic nephrotic Rituximab Vasculitis Adult Aged Aged 80 and over Austria Autoimmune Diseases Body Mass Index Female Humans Immunologic Factors Incidence Infections Kaplan-Meier Estimate Kidney Diseases Male Middle Aged Proportional Hazards Models Registries Retrospective Studies Risk Factors Rituximab Young Adult
Targeting mitochondrial oxidative stress with MitoQ reduces NET formation and kidney disease in lupus-prone MRL- lpr mice
Using single-cell technologies to map the human immune system - implications for nephrology.
Advances in single-cell technologies are transforming our understanding of cellular identity. For instance, the application of single-cell RNA sequencing and mass cytometry technologies to the study of immune cell populations in...
Neuropsychiatric events in systemic lupus erythematosus
John G Hanly, Murray B Urowitz, Caroline Gordon, Sang-Cheol Bae, Juanita Romero-Diaz, Jorge Sanchez-Guerrero, Sasha Bernatsky, Ann E Clarke, Daniel J Wallace, David A Isenberg, Anisur Rahman, Joan T Merrill, Paul R Fortin, Dafna D Gladman, Ian N Bruce, Michelle Petri, Ellen M Ginzler, Mary Anne Dooley, Rosalind Ramsey-Goldman, Susan Manzi, Andreas Jönsen, Graciela S Alarcón, Ronald F van Vollenhoven, Cynthia Aranow, Meggan Mackay, Guillermo Ruiz-Irastorza, Sam Lim, Murat Inanc, Kenneth C Kalunian, Søren Jacobsen, Christine A Peschken, Diane L Kamen, Anca Askanase, Vernon Farewell
Feb 04, 2020
OBJECTIVES: Using a reversible multistate model, we prospectively examined neuropsychiatric (NP) events for attribution, outcome and association with health-related quality of life (HRQoL), in an international, inception cohort...
T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection.
The clinical course of autoimmune and infectious disease varies greatly, even between individuals with the same condition. An understanding of the molecular basis for this heterogeneity could lead to significant improvements in...
Animals Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Autoimmune Diseases Autoimmunity CD2 Antigens CD4-Positive T-Lymphocytes CD8-Positive T-Lymphocytes Humans Infections Inflammation Inflammatory Bowel Diseases Lupus Erythematosus Systemic Mice Phenotype Programmed Cell Death 1 Receptor Receptors Antigen T-Cell Receptors Interleukin-7 Transcriptome
Immunoglobulin replacement for secondary immunodeficiency after B-cell targeted therapies in autoimmune rheumatic disease
Sonali Wijetilleka, Chetan Mukhtyar, David Jayne, Aftab Ala, Philip Bright, Hector Chinoy, Lorraine Harper, Majid Kazmi, Sorena Kiani-Alikhan, Charles Li, Siraj Misbah, Louise Oni, Fiona Price-Kuehne, Alan Salama, Sarita Workman, David Wrench, Mohammed Yousuf Karim
Feb 24, 2020
BACKGROUND: Consensus guidelines are not available for the use of immunoglobulin replacement therapy (IGRT) in patients developing iatrogenic secondary antibody deficiency following B-cell targeted therapy (BCTT) in autoimmune...
ET-traps offer a potential therapeutic tool for use in different autoimmune diseases.
Research shows that endothelin (ET)-traps are a potential therapy for diabetes. Given that type 1 diabetes mellitus (T1DM) is an autoimmune disorder, ET-traps could also have an efficacious, therapeutic effect on other...
Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
Gerard AJ Morris, Christopher E Lowe, Jason D Cooper, Felicity Payne, Adrian Vella, Lisa Godfrey, John S Hulme, Neil M Walker, Barry C Healy, Alex C Lam, Paul A Lyons, John A Todd
Jun 16, 2011
Autoimmune Diseases Databases Genetic Diabetes mellitus Type 1 Exons Family Health Female Genetic Linkage Genetic Predisposition to Disease Humans Interferon Type I Interferon-alpha Interferon-beta Interferon-gamma Interferons Linkage Disequilibrium Male Models Statistical Multigene Family Polymorphism Genetic Polymorphism Single Nucleotide Sequence Analysis DNA
Simian Immunodeficiency Virus Infection of Chimpanzees (Pan troglodytes) Shares Features of Both Pathogenic and Non-pathogenic Lentiviral Infections.
Edward JD Greenwood, Fabian Schmidt, Ivanela Kondova, Henk Niphuis, Vida L Hodara, Leah Clissold, Kirsten McLay, Bernadette Guerra, Sharon Redrobe, Luis D Giavedoni, Robert E Lanford, Krishna K Murthy, François Rouet, Jonathan L Heeney
Aug 28, 2015
Animals Ape Diseases Autoimmune Diseases Biomarkers CD4 Lymphocyte Count Female HIV-1 Hyperplasia Lentivirus Infections Lentiviruses Primate Lymph Nodes Male Myxovirus Resistance Proteins Neopterin Pan troglodytes Peptide Fragments Receptors TNF-Related Apoptosis-Inducing Ligand Simian Acquired Immunodeficiency Syndrome Simian Immunodeficiency Virus Thrombocytopenia Viral Load beta 2-Microglobulin
Targeting mitochondrial oxidative stress with MitoQ reduces NET formation and kidney disease in lupus-prone MRL-lpr mice.
Karen A Fortner, Luz P Blanco, Iwona Buskiewicz, Nick Huang, Pamela C Gibson, Deborah L Cook, Hege L Pedersen, Peter ST Yuen, Michael P Murphy, Andras Perl, Mariana J Kaplan, Ralph C Budd
Jun 05, 2020
OBJECTIVES: Recent investigations in humans and mouse models with lupus have revealed evidence of mitochondrial dysfunction and production of mitochondrial reactive oxygen species (mROS) in T cells and neutrophils. This can...
T cells Autoimmune Diseases Inflammation Systemic Lupus Erythematosus Animals Autoantibodies Disease Models Animal Extracellular Traps Female Humans Interferon Type I Kidney Kidney Diseases Lupus Erythematosus Systemic Male Mice Mice Inbred MRL lpr Mitochondria Neutrophils Organophosphorus Compounds Oxidation-Reduction Oxidative Stress Reactive Oxygen Species T-Lymphocytes Ubiquinone
The DILfrequency study is an adaptive trial to identify optimal IL-2 dosing in patients with type 1 diabetes.
Eleonora Seelig, James Howlett, Linsey Porter, Lucy Truman, James Heywood, Jane Kennet, Emma L Arbon, Katerina Anselmiova, Neil M Walker, Ravinder Atkar, Marcin L Pekalski, Ed Rytina, Mark Evans, Linda S Wicker, John A Todd, Adrian P Mander, Simon Bond, Frank Waldron-Lynch
Nov 21, 2018
Autoimmune Diseases Autoimmunity Clinical Trials Diabetes T cells Adolescent Adult Aged Diabetes mellitus Type 1 Dose-Response Relationship Drug Drug Administration Schedule Feasibility Studies Female Humans Interleukin-2 Interleukin-2 Receptor alpha Subunit Lymphocyte Activation Lymphocyte Count Male Middle Aged Recombinant Proteins T-Lymphocytes Regulatory Treatment Outcome Young Adult
SARS-COV-2 vaccine responses in renal patient populations.
Rona M Smith, Daniel J Cooper, Rainer Doffinger, Hannah Stacey, Abdulrahman Al-Mohammad, Ian Goodfellow, Stephen Baker, Sara Lear, Myra Hosmilo, Nicholas Pritchard, Nicholas Torpey, David Jayne, Vivien Yiu, Anil Chalisey, Jacinta Lee, Enric Vilnar, Chee Kay Cheung, Rachel B Jones
Jun 07, 2022
BACKGROUND: Dialysis patients and immunosuppressed renal patients are at increased risk of COVID-19 and were excluded from vaccine trials. We conducted a prospective multicentre study to assess SARS-CoV-2 vaccine antibody...
Integrated safety profile of atacicept
Caroline Gordon, Roberto Bassi, Peter Chang, Amy Kao, David Jayne, David Wofsy, Patricia Fleuranceau-Morel
Jan 17, 2020
OBJECTIVE: To characterize the overall safety profile of atacicept, we conducted an integrated analysis of pooled safety data from all 17 clinical studies to date. METHODS: Three data sets were used to investigate safety...
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Aaron Burberry, Naoki Suzuki, Jin-Yuan Wang, Rob Moccia, Daniel A Mordes, Morag H Stewart, Satomi Suzuki-Uematsu, Sulagna Ghosh, Ajay Singh, Florian T Merkle, Kathryn Koszka, Quan-Zhen Li, Leonard Zon, Derrick J Rossi, Jennifer J Trowbridge, Luigi D Notarangelo, Kevin Eggan
Sep 04, 2019
C9ORF72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the C9ORF72 gene product remains poorly understood. We show that...
Systemic silencing of PHD2 causes reversible immune regulatory dysfunction.
Atsushi Yamamoto, Joanna Hester, Philip S Macklin, Kento Kawai, Masateru Uchiyama, Daniel Biggs, Tammie Bishop, Katherine Bull, Xiaotong Cheng, Eleanor Cawthorne, Mathew L Coleman, Tanya L Crockford, Ben Davies, Lukas E Dow, Rob Goldin, Kamil Kranc, Hiromi Kudo, Hannah Lawson, James McAuliffe, Kate Milward, Cheryl L Scudamore, Elizabeth Soilleux, Fadi Issa, Peter J Ratcliffe, Chris W Pugh
Dec 20, 2019
Physiological effects of cellular hypoxia are sensed by prolyl hydroxylase (PHD) enzymes which regulate HIFs. Genetic interventions on HIF/PHD pathways reveal multiple phenotypes that extend the known biology of hypoxia. Recent...
Recommendations for the management of secondary hypogammaglobulinaemia due to B cell targeted therapies in autoimmune rheumatic diseases.
Sonali Wijetilleka, David R Jayne, Chetan Mukhtyar, Aftab Ala, Philip D Bright, Hector Chinoy, Lorraine Harper, Majid A Kazmi, Sorena Kiani-Alikhan, Charles K Li, Siraj A Misbah, Louise Oni, Fiona E Price-Kuehne, Alan D Salama, Sarita Workman, David Wrench, Mohammed Yousuf Karim
Nov 27, 2019
OBJECTIVES: The association of B cell targeted therapies with development of hypogammaglobulinaemia and infection is increasingly recognized. Our aim was to develop consensus recommendations for immunoglobulin replacement...
Comprehensive genetic and functional analyses of Fc gamma receptors influence on response to rituximab therapy for autoimmunity.
James I Robinson, Md Yuzaiful Md Yusof, Vinny Davies, Dawn Wild, Michael Morgan, John C Taylor, Yasser El-Sherbiny, David L Morris, Lu Liu, Andy C Rawstron, Maya H Buch, Darren Plant, Heather J Cordell, John D Isaacs, Ian N Bruce, Paul Emery, Anne Barton, Timothy J Vyse, Jennifer H Barrett, Edward M Vital, Ann W Morgan, MATURA Consortia, MASTERPLANS Consortia
Dec 14, 2022
BACKGROUND: Rituximab is widely used to treat autoimmunity but clinical response varies. Efficacy is determined by the efficiency of B-cell depletion, which may depend on various Fc gamma receptor (FcγR)-dependent mechanisms....
Approaches and advances in the genetic causes of autoimmune disease and their implications
Genome-wide association studies are transformative in revealing the polygenetic basis of common diseases, with autoimmune diseases leading the charge. Although the field is just over 10 years old, advances in understanding the...
Rituximab Associated Hypogammaglobulinemia in Autoimmune Disease.
Joanna Tieu, Rona M Smith, Seerapani Gopaluni, Dinakantha S Kumararatne, Mark McClure, Ania Manson, Sally Houghton, David RW Jayne
Jun 07, 2021
OBJECTIVE: To evaluate the characteristics of patients with autoimmune disease with hypogammaglobulinemia following rituximab (RTX) and describe their long-term outcomes, including those who commenced immunoglobulin replacement...
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