Results 81 to 90 of about 165,261 (263)

Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity

Frontiers in Immunology, 2022
Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disorder presenting with a broad spectrum of clinical manifestations, including immunodeficiency, vasculopathy and hematologic disease. Biallelic mutations in ADA2 gene have been
Sara Signa, Arinna Bertoni, Arinna Bertoni, Federica Penco, Roberta Caorsi, Alessia Cafaro, Giuliana Cangemi, Stefano Volpi, Stefano Volpi, Marco Gattorno, Francesca Schena   +10 more
doaj   +1 more source

Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network. [PDF]

, 2016
BACKGROUND: Tumour necrosis factor (TNF) superfamily cytokines and their receptors regulate diverse immune system functions through a common set of signalling pathways. Genetic variants in and expression of individual TNF superfamily cytokines, receptors
Lee, James C, Lyons, Paul A, Peters, James E, Richard, Arianne C, Schäffer, Alejandro A, Siegel, Richard M, Smith, Kenneth GC, Vahedi, Golnaz   +7 more
core   +10 more sources

Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study

Arthritis &Rheumatology, EarlyView.
Objective The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Methods This multicenter international study includes patients with VEXAS from France, Israel, and Italy treated with ...
Tali Eviatar, Dafne Capelusnik, Corrado Campochiaro, Valentin Lacombe, Vincent Jachiet, Michael Zisapel, Iftach Sagy, Oshrat E. Tayer‐Shifman, David Ozeri, Shaye Kivity, Alessandro Tomelleri, Benjamin Terrier, Hagit Peleg, Thibault Comont, Karim Sacre, Pascal Woaye‐Hune, Laurent Arnaud, Estibaliz Lazaro, Vincent Grobost, Francois Lifermann, Maxime Samson, Samuel Ardois, Alice Garnier, Alexandre Maria, Alain Cantagrel, Aurore Meyer, Jean‐David Bouaziz, Mael Heiblig, Lorenzo Dagna, Elisa Diral, Olivier Kosmider, Ori Elkayam, Jérôme Hadjadj, Sophie Georgin‐Lavialle, Olivier Fain, Arsene Mekinian   +35 more
wiley   +1 more source

Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide

Frontiers in Immunology, 2020
Monogenic autoinflammatory diseases are rare conditions caused by genetic abnormalities affecting the innate immunity. Previous therapeutic strategies had been mainly based on results from retrospective studies and physicians' experience. However, during
Alessandra Soriano, Marco Soriano, Gerard Espinosa, Raffaele Manna, Giacomo Emmi, Luca Cantarini, José Hernández-Rodríguez   +6 more
doaj   +1 more source

A Review of Ankylosing Spondylitis [PDF]

, 2017
Ankylosing spondylitis (AS) is a systemic autoimmune disorder that induces ankylosis of the spine (fusion of the vertebrae at their various joints) and inflammatory arthritis of peripheral joints among other symptoms.
Owen, Hannah L
core   +1 more source

Genetically defined autoinflammatory diseases [PDF]

Oral Diseases, 2016
Autoinflammatory diseases are hyperinflammatory, immune dysregulatory conditions that typically present in early childhood with fever and rashes and disease‐specific patterns of organ inflammation. This review provides a historic background of autoinflammatory disease research, an overview of the currently genetically defined autoinflammatory diseases,
A A, de Jesus, R, Goldbach-Mansky
openaire   +2 more sources

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis &Rheumatology, EarlyView.
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez‐Rojas, Alicia Diaz‐Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, Gsrsnk Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee   +55 more
wiley   +1 more source

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype [PDF]

, 2016
Autoinflammatory disorders (AID) are a heterogeneous group of diseases, characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever1-3.
Blokx, W. A. M., Boes, M., de Koning, H. D., de Kovel, C., Frenkel, J., Giltay, J., Oberndorff, K., Schalkwijk, J., Simon, A., van Gijn, M. E., van Kempen, T. S., van Steensel, M. A. M., van Well, G. T. J., Volker-Touw, C. M. L.   +13 more
core   +2 more sources

Identification of histone deacetylase inhibitor targeting type I interferon and B‐cell abnormalities in systemic lupus erythematosus

Arthritis &Rheumatology, Accepted Article.
Objective Systemic lupus erythematosus (SLE) is characterized by increased type I interferon (IFN‐I) and autoantibody production. This study aimed to identify drugs that can inhibit both IFN‐I and autoantibody production. Methods We identified an inhibitor of IFN‐I production from a chemical library.
Takehiro Hirayama, Hachiro Konaka, Yasuhiro Kato, Takayuki Shibahara, Chisato Nishizawa, Kohei Tsujimoto, JeongHoon Park, Eri Itotagawa, Tatsunori Jo, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Wataru Aoki, Ken J Ishii, Hyota Takamatsu, Atsushi Kumanogoh   +16 more
wiley   +1 more source

Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature [PDF]

, 2015
Macrophage activation syndrome (MAS) is a potentially fatal condition. It is a rare complication of several autoimmune disorders, including systemic lupus erythematosus (SLE) and systemic juvenile idiopathic arthritis (sJIA).
Didona, Dario, Feola, Aldo, Granata, Guido, Granata, Massimo, Stifano, Giuseppina   +4 more
core   +4 more sources