Results 81 to 90 of about 24,725 (157)
Autoinflammation in patients with leukocytic CBL loss-of-heterozygosity is caused by constitutive ERK-mediated monocyte activation
Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss-of-heterozygosity (LOH) via ...Ogishi, Masato, Lori Buetow, Rinchai, Darawan, Jérémie Rosain, Shen-Ying Zhang, Jean-Laurent Casanova, Camille Soudée, Rice, Gillian, Erlacher , Miriam, En-Jui Cho, Li, Hailun, Francesca Conti, Isabelle André, Steicy Sobrino, Crow, Yanick J., Davide Leardini, Bessot, Boris, Candice Lainé, Jacinta Bustamante, Chantal Lagresle-Peyrou, Ma, Cindy S., Buetow, Lori, Jonathan Bohlen, André, Isabelle, Arango-Franco, Carlos A., Aiuti, Alessandro, Anne Puel, Masson, Cécile, Ma, Cindy S, Le Floc'h, Corentin, Six, Emmanuelle, Bagarić, Ivan, Barzaghi, Federica, Baccelli , Francesco, Zhang, Peng, Pasquet, Marlène, Stuart G. Tangye, Erazo-Borrás, Lucia, Masato Ogishi, Lucia Erazo-Borrás, Claire Goulvestre, Marinella Veltroni, Edoardo Muratore, Eric Delabesse, Seabra, Luis, Lagresle-Peyrou , Chantal, Taja Vatovec, Ahmed, Syed F., Crow, Yanick, Michelet, Marine, Rosain, Jérémie, Tangye, Stuart G, Albert Catala, Bole-Feysot, Christine, Ahmed, Syed F, Gillian I. Rice, Catala, Albert, Sobrino, Steicy, Christine Bole-Feysot, Yanick J. Crow, Anna-Lena Neehus, Marlène Pasquet, Berteloot, Laureline, Huang, Danny T, Francesco Baccelli, Neehus, Anna-Lena, Veltroni, Marinella, Crow, Yanick J, Corentin Le Floc’h, Luis Seabra, Cindy S. Ma, Delabesse, Eric, Le Floc’h, Corentin, Cederholm, Axel, Filippo Consonni, Yurena Aguilar de la Red, Bagarić , Ivan, Rice, Gillian I, Soudée, Camille, Zhang, Shen-ying, Tangye, Stuart G., Laetitia Largeaud, Arango-Franco, Carlos, Erlacher, Miriam, Laia Alsina, Francesca Vendemini, Béziat, Vivien, Danny T. Huang, Ivan Bagarić, Bustamante, Jacinta, Janda, Zarah, Laurent Abel, Leardini, Davide, Aguilar de la Red, Yurena, Alsina, Laia, Eleonora Gambineri, Gambineri , Eleonora, Federica Barzaghi, Peng Zhang, Conti, Francesca, Seeleuthner, Yoann, Landegren, Nils,, Consonni , Filippo, Darawan Rinchai, Ahmed, Syed, Masetti, Riccardo, Huang, Danny, Nils Landegren, Largeaud, Laetitia, Emmanuelle Six, Marine Michelet, Cécile Roullion, Vendemini, Francesca, Consonni, Filippo, Landegren, Nils, Vivien Béziat, Francesco Saettini, Laureline Berteloot, Muratore, Edoardo, Axel Cederholm, Bohlen, Jonathan, Alessandro Aiuti, Tom Le Voyer, Boris Bessot, Miriam Erlacher, Arango-Franco, Carlos A, Saettini, Francesco, Cho, En-Jui, Ma, Cindy, Yoann Seeleuthner, Tangye, Stuart, Cederholm, Axel,, Hailun Li, Le Voyer, Tom, Goulvestre, Claire, Puel, Anne, Baccelli, Francesco, Rice, Gillian I., Riccardo Masetti, Zarah Janda, Lainé, Candice, Vatovec, Taja, Syed F. Ahmed, Abel, Laurent, Casanova, Jean-Laurent, Cécile Masson, Roullion, Cécile, Lagresle-Peyrou, Chantal, Huang, Danny T., Gambineri, Eleonora, Carlos A. Arango-Franco +150 morecore +2 more sourcesHuman HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
, 2015 International audienceInherited, complete deficiency of human HOIL-, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylo-pectinosis.Lidov, Hart G. W., Bertrand Boisson, Cobat, Aurélie, Tarantino, Nadine, Erdyni Tsitsikov, Lidov, Hart G W, Eibel, Hermann, Laplantine, Emmanuel, Hopkins, Gregory, Melissa Hazen, Itan, Yuval, Notarangelo, Luigi D, Al–Herz, Waleed, Israel, Alain, Jean-Laurent Casanova, Hazen, Melissa, Jean-Christophe Fournet, Yuval Itan, Al-Herz, Waleed, Belkadi, Aziz, Chrabieh, Maya, Boisson, Bertrand, Nadine Tarantino, Kerry Dobbs, Tsitsikov, Erdyni, Capucine Picard, Pai, Sung-Yun, Sung-Yun Pai, Waleed Al-Herz, Alain Israel, Du, Likun, Lidov, Hart, Hart G.W. Lidov, Laurent Abel, Fournet, Jean-Christophe, Emmanuel Laplantine, Likun Du, Hermann Eibel, Dobbs, Kerry, Luigi D. Notarangelo, Aurélie Cobat, Maya Chrabieh, Abel, Laurent, Casanova, Jean-Laurent, Gregory Hopkins, Notarangelo, Luigi, Picard, Capucine, Aziz Belkadi +47 morecore +1 more sourceAutoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis
, 2015 Autoimmunity and autoinflammation are generally considered as mutually exclusive mechanisms of diseases but may concur to specific syndromes. Idiopathic recurrent acute pericarditis (IRAP) is defined as the recurrence of pericardial symptoms at any point Iannone, Florenzo, G. Lopalco, D. Rigante, L. Costa, F. Iannone, CANTARINI, LUCA, F. Caso, C. Selmi, Lopalco, Giuseppe, Costa, Luisa, G. De Rosa, Napodano, Salvatore, Caso, Francesco, Selmi, Carlo, De Rosa, Gabriella, L. Cantarini, Rigante, Donato, S. Napodano +17 morecore +1 more sourceADAR1 prevents autoinflammation by suppressing spontaneous ZBP1 activation
, 2022 The RNA-editing enzyme adenosine deaminase acting on RNA 1 (ADAR1) limits the accumulation of endogenous immunostimulatory double-stranded RNA (dsRNA)(.) In humans, reduced ADAR1 activity causes the severe inflammatory disease Aicardi-Goutieres syndrome (Nemegeer, Josephine000180957136802002963687978864793422B31CACEE-B220-11E8-96F8-E0445707D3EF, Hur, Sun, Vandenabeele, PeterCA05WE140019790145118010005653840000-0002-6669-8822F4243658-F0ED-11E1-A9DE-61C894A0A6B4, Vereecke, LarsGE350020003239938010020881830000-0002-1593-862XF815AD64-F0ED-11E1-A9DE-61C894A0A6B4, Declercq, WimWE148010007079550000-0002-8218-2017F463B710-F0ED-11E1-A9DE-61C894A0A6B4, Maelfait, JonathanWE140020011848698010020959640000-0002-1476-0583F81EEFFA-F0ED-11E1-A9DE-61C894A0A6B4, Botzki, Alexander, Jans, MaudeGE3500014024067780200351143695FB78AA-06EB-11E4-9033-89CC4B2F559A, Blancke, GillianGE35802001873550C995A402-3223-11E4-ABE3-9037B5D1D7B1, de Reuver, RichardWE14000181614918802003067256AF1D7234-FD9A-11E8-83FB-9C885607D3EF, Verdonck, SimonWE140001816928218020032125540000-0002-6936-58044019B958-C2CD-11E9-9185-E8255707D3EF, Hessmann, ElineUGent000161127205802004109196977994574187374085C0-8110-11E6-A481-131EB5D1D7B1, van Loo, GeertWE148010012161930000-0002-8427-4775F5670E3C-F0ED-11E1-A9DE-61C894A0A6B4, Dierick, EvelienWE140020053652668020006332631B5537B8-F0EE-11E1-A9DE-61C894A0A6B4, Van Nieuwerburgh, FilipFW010019944544838010013358290000-0001-8815-5485F5BC58D8-F0ED-11E1-A9DE-61C894A0A6B4, Ahmad, Sadeem +15 morecore Autoinflammation and Autoimmunity: More to What Meets the Eye
Indian Journal of Rheumatology, 2023 Balakrishnan, Anu, Mehta, Pankti, Sen, Parikshit, Gupta, Vikas, Gupta, Latika +4 moreopenaire +2 more sourcesModulating regulatory T cell migration in the treatment of autoimmunity and autoinflammation.
Treatment of autoimmunity and autoinflammation with regulatory T cells has received much attention in the last twenty years. Despite the well-documented clinical benefit of Treg therapy, a large-scale application has proven elusive, mainly due to the ...Marelli-Berg, F, Martin, J, Chorlton, J, Hollowood, Z, Dyer, C +4 morecore +1 more sourceClinical impact of whole exome sequencing: ten years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience
OBJECTIVE: To evaluate the diagnostic yield of whole exome sequencing (WES) vs targeted gene panel (TGP) testing in patients evaluated for autoinflammation at Great Ormond Street Hospital Autoinflammation Centre of Excellence. METHODS: We retrospectively Price-Kuehne, Fiona, Ibrahim, Sana, Burleigh, Alice, Brogan, Paul, Hong, Ying, Nazmutdinova, Katia, McCreary, Dara, Omoyinmi, Ebun, McLellan, Kirsty, Eleftheriou, Despina +9 morecore
