Results 51 to 60 of about 2,214,075 (211)
Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan +28 morewiley +1 more sourceFrom Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, EarlyView.Objective
TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan +13 morewiley +1 more sourceConsensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study [PDF]
, 2018 Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not.KASTNER, Daniel L., Ruperto, N, Paediatric Rheumatology International Trials Organisation (PRINT, Lachmann, Helen J., Gul, A, Kästner, Daniel, Ruperto, Nicolino, Lachmann, HJ, Touitou, I, Gattorno, M, Ben-Chetrit, Eldad, Gul, Ahmet, Ben-Chetrit, E, Lachmann, Helen, J., Gattorno, Marco, Lachmann, Helen,, Touitou, Isabelle, Kastner, DL +17 morecore +1 more sourceComplement Activation Linked to Type II Interferon Signaling in Still Disease
Arthritis &Rheumatology, EarlyView.Objective
Still disease (SD) is an autoinflammatory syndrome characterized by innate immune dysregulation. Although complement can drive inflammation, its involvement in SD remains to be defined. Thus, we aimed to assess complement activation in SD. Methods
Complement was assessed using transcriptomic, proteomic, and in vitro approaches. RNA sequencing Freya M. C. H. Huijsmans, Tabea Thalheim, Alejandra Bodelón, Greta Rogani, Lyanne J. P. M. Sijbers, Remco G. A. Erkens, Aafke de Ligt, Rianne Scholman, Aron Brinker, Gisella B. Beretta, Nienke M. Ter Haar, Thomas Vogl, Johannes Roth, Trang T. Duong, Sytze de Roock, Joost F. Swart, Deborah A. Marshall, Susanne M. Benseler, Rae S. M. Yeung, Christoph Kessel, Sebastiaan J. Vastert, Emely L. Verweyen, Jorg van Loosdregt, on behalf of the UCAN CAN‐DU/UCAN CURE Consortia and the One Child Every Child Initiative, Adam Huber, Bianca Lang, Chelsea DeCoste, Elizabeth Stringer, Suzanne Ramsey, Alan Rosenberg, Kate Neufeld, Mehul Jariwala, Tristan Kerr, Alexander Mosoiu, Alisa Rachlis, Amy Xu, Arthur Cheng, Brenleigh Jebb, Brian Feldman, Bruno Pereira, Deborah Levy, Dilan Dissanayake, Elizaveta Limenis, Evelyn Rozenblyum, Harper Cheng, Jennifer Ji Young Lee, Lynn Spiegel, Rayfel Schneider, Ronald Laxer, Ruud Verstegen, Shirley Tse, Andrea Human, David Cabral, Herman Tam, Jaime Guzman, Kim Morishita, Kristin Houghton, Lori Tucker, Mercedes Chan, Ross Petty, Tommy Gerschman, Annet van Royen‐Kerkhof, Berent Prakken, Erika Van Nieuwenhove, Marc Jansen, Nico Wulffraat, Ciarán Duffy, Nadia Luca, Roman Jurencak, Tala El Tal, Claire LeBlanc, Gaëlle Chédeville, Piya Lahiry, Rosie Scuccimarri, Sarah Campillo, Clare Hutchinson, Daniah Basodan, Dax G Rumsey, Hon Yan Ng, Jeanine McColl, Lillian Lim, Tara McGrath, Danielle Brinkman, Petra Hissink Muller, Elizabeth Legger, Wineke Armbrust, Ellen Schatorje, Esther Hoppenreijs, Elodie Boudes, Gillian Currie, Heinrike Schmeling, Muhammed Dhalla, Nicole Johnson, Paivi Miettunen, Ravneet Sran, Rebeka Stevenson, Erkan Demirkaya, Jonathan Park, Roberta Berard, Giske Biesbroek, Mariken Gruppen, Gordon Soon, Joseph Cafazzo, Liane Heale, Michelle Batthish, Tania Cellucci, Lily Lim, Maarten IJzerman, Marinka Twilt, Marleen Verkaaik, Philomine van Pelt, Sylvia Kamphuis, Michelle Kip, Nicholas Blanchette, Paul Dancey, Regina de Geus +115 morewiley +1 more source2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [PDF]
, 2010 Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art ...S. Waserman, Harmat, George, E. Leith, Bernstein Jonathan, Bowen, Tom, Leith, Eric, Doris Neurath, Craig, Timothy, Paul K Keith, Eric Leith, A. Hamed, D. Moldovan, Zuraw Bruce, Betschel Stephen, Avner Reshef, Dean, John, Cicardi Marco, Moldovan, Dumitru, Lilian Varga, Hilary J Longhurst, Rowe Anne, Nordenfelt Patrik, Barbara Mako, Harmat George, B. Ritchie, Martinez-Saguer, Inmaculada, Fust George, Della Cogar, Inmaculada Martinez-Saguer, George Fust, Devaraj, Ramachand, Mike Frank, Richard Warrington, J. Bernstein, Rowan, Dereth, Nielsen Erik W, Li, Henry, Tsai Ellie, D. Cogar, Timothy Craig, Zhi Xiang, Poon Man-Chiu, J. Brosz, E. Tsai, Marco Cicardi, R. Schellenberg, R. Warrington, Sur, Smeeksha, B. Mako, I. Nagy, Bork, Konrad, Frank Mike, George Harmat, Frank, Mike, Karen Binkley, H. Lyons, Schellenberg, Robert, Longhurst, Hilary, Erik W Nielsen, L. Varga, Farkas Henriette, Henriette Farkas, Mako, Barbara, Devaraj Ramachand, Longhurst Hilary J, G. E. Rivard, Rusicke, Eva, Hamed, Azza, Kreuz, Wolfhart, Eva Rusicke, Poon, Man-Chiu, Späth, Peter, Binkley Karen, Anne Rowe, Craig Timothy, Istvan Nagy, Neurath, Doris, Xiang, Zhi Yu, Bowen Tom, E. W. Nielsen, Lacuesta, Gina, Sean Mace, Bouillet Laurence, Nagy Istvan, Lacuesta Gina, Brosz Kristylea, Nielsen, Erik W, John Brosz, D. Rowan, D. Neurath, Peter Späth, A. Kanani, Nagy, Istvan, Ameratunga Rohan, Bruce Ritchie, Aygoeren-Pürsün Emel, Li Henry, A. Rowe, G. Lacuesta, Keith Paul K, B. Zuraw, T. Craig, Ritchie, Bruce, Caballero Teresa, Cogar Della, S. Mace, M. Frank, Dumitru Moldovan, S. Betsche, Mace Sean, M. Poon, Zhi Yu Xiang, Lyons, Harriet, Waserman Susan, J. Dean, T. Caballero, Xiang Zhi, Tom Bowen, Rohan Ameratunga, Gina Lacuesta, M. Levi, Smith-Foltz Sarah, S. Sur, Brosz, John, Björkander, Janne, Aygören-Pürsün, Emel, Warrington Richard, Aygoeren-Pürsün, Emel, Susan Waserman, Binkley, Karen, Waserman, Susan, Ritchie Bruce, Donald Stark, Keith, Paul K, Xiang, Zhi Y, Bygum, Anette, Bruce Zuraw, Anette Bygum, H. Li, R. Ameratunga, Bork Konrad, Robert Schellenberg, Rivard Georges-Etienne, Sarah Smith-Foltz, Caballero, Teresa, I. Martinez Saguer, Reshef Avner, Martinez Saguer, Inmaculada, H. J. Longhurst, Varga Lilian, J. Björkander, Laurence Bouillet, Palinder Kamra, Leith Eric, Betschel, Stephen, Bernstein, Jonathan, Ellie Tsai, T. Bowen, K. Brosz, Ramachand Devaraj, J. Hebert, Rowe, Anne, L. Bouillet, Kristylea Brosz, Dereth Rowan, Marcel Levi, Neurath Doris, P. Späth, Kanani, Amin, G. Harmat, M. Cicardi, Kanani Amin, Bygum Anette, Stephen Betschel, Sur Smeeksha, Martinez-Saguer Inmaculada, G. Fust, Nordenfelt, Patrik, Teresa Caballero, Bouillet, Laurence, Fust, George, H. Farkas, Jonathan Bernstein, Levi, Marcel, Jacques Hebert, Keith, Paul K., Stark, Donald, P. Nordenfelt, Hebert, Jacques, Xiang, Zhi, Warrington, Richard, D. Stark, Harriet Lyons, A. Bygum, Longhurst, Hilary J, Stark Donald, Henry Li, Rowan Dereth, Farkas, Henriette, Lyons Harriet, Bygum, Anette; id_orcid, Levi Marcel, Kamra, Palinder, Dean John, Ameratunga, Rohan, E. Aygoeren Pürsün, A. Reshef, Brosz, Kristylea, Janne Björkander, R. Devaraj, Konrad Bork, P. K. Keith, Björkander Janne, Kamra Palinder, Bernstein, Jonathan A., Späth Peter, Azza Hamed, Schellenberg Robert, P. Kamra, Cicardi, Marco, Amin Kanani, Mace, Sean, Smeeksha Sur, Levi, Marcel M., Y. X. Zhi, Varga, Lilian, Reshef, Avner, S. Smith Foltz, Georges-Etienne Rivard, Rusicke Eva, Rivard, Georges-Etienne, Smith-Foltz, Sarah, K. Binkley, Yu Xiang, Zhi, Emel Aygoeren-Pürsün, Cogar, Della, Hebert Jacques, Patrik Nordenfelt, E. Rusicke, Brosz John, John Dean, Mako Barbara, Zuraw, Bruce, Moldovan Dumitru, W. Kreuz, K. Bork, Tsai, Ellie, Kreuz Wolfhart, Man-Chiu Poon, Wolfhart Kreuz, Nielsen, Erik W., Hamed Azza +251 morecore +1 more sourcePersistent Interleukin‐18 Fuels Expansion of CD38+HLA‐DR+CD8+ T Cells in Still Disease and Macrophage Activation Syndrome
Arthritis &Rheumatology, EarlyView.Objective
Still disease (SD) is an autoinflammatory disorder characterized by remarkably high interleukin‐18 (IL‐18) levels. Increasing evidence suggests that adaptive immunity also contributes to its pathogenesis, particularly in refractory courses. Macrophage activation syndrome (MAS), one of SD's most severe complications, is associated with further Greta Rogani, Remco G. A. Erkens, Alejandra Bodelón, Tim R. Mocking, Marein T. M. Putmans, Freya M. C. H. Huijsmans, Lyanne J. P. M. Sijbers, Aafke M. De Ligt, Maurice J. H. Van Haaren, Rianne C. Scholman, Noël M. M. Dautzenberg, Joyce I. Meesters‐Ensing, Martina Rossano, Laura Porretti, Stefan Nierkens, Francesca S. Minoia, Sebastiaan J. Vastert, Jorg van Loosdregt +17 morewiley +1 more source
