1,201 results on '"Sediva, A"'
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2. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
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Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, and Zhang, Peng
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Humans ,Autoantibodies ,COVID-19 ,Gain of Function Mutation ,Genetic Predisposition to Disease ,Heterozygote ,I-kappa B Proteins ,Interferon Type I ,Loss of Function Mutation ,NF-kappa B ,NF-kappa B p52 Subunit ,Pneumonia ,Viral ,Thymus Gland ,Thyroid Epithelial Cells - Abstract
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.
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- 2023
3. A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis
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Rao, V. Koneti, Šedivá, Anna, Dalm, Virgil A.S.H., Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Trizzino, Antonino, Zharankova, Yulia, Orpia, Alanvin, Kulm, Elaine, Webster, Sharon, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Conlon, Niall, Coulter, Tanya, Bradt, Jason, Relan, Anurag, and Uzel, Gulbu
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- 2025
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4. European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia
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Burns, Siobhan O., Carrabba, Maria, Gardulf, Ann, Haerynck, Filomeen, Hauck, Fabian, Jandus, Peter, Meyts, Isabelle, Klocperk, Adam, Neven, Bénédicte, Pac, Malgorzata, Pergent, Martine, Sediva, Anna, Soler-Palacín, Pere, Velcheva, Margarita, Warnatz, Klaus, Kreins, Alexandra Y., Dhalla, Fatima, Flinn, Aisling M., Howley, Evey, Ekwall, Olov, Villa, Anna, Staal, Frank J.T., Anderson, Graham, Gennery, Andrew R., Holländer, Georg A., and Davies, E. Graham
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- 2024
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5. Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
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Soomann, Maarja, Bily, Viktor, Elgizouli, Magdeldin, Kraemer, Dennis, Akgül, Gülfirde, von Bernuth, Horst, Bloomfield, Markéta, Brodszki, Nicholas, Candotti, Fabio, Förster-Waldl, Elisabeth, Freiberger, Tomas, Giżewska, Maria, Klocperk, Adam, Kölsch, Uwe, Nichols, Kim E., Krüger, Renate, Oak, Ninad, Pac, Małgorzata, Prader, Seraina, Schmiegelow, Kjeld, Šedivá, Anna, Sogkas, Georgios, Stittrich, Anna, Stoltze, Ulrik Kristoffer, Theodoropoulou, Katerina, Wadt, Karin, Wong, Melanie, Zeyda, Maximillian, Pachlopnik Schmid, Jana, and Trück, Johannes
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- 2024
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6. Combined Brute Force method for source apportionment purposes
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Šedivá, Tereza and Štefánik, Dušan
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- 2025
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7. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
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Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, and Puel, Anne
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- 2023
- Full Text
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8. Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells
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Csomos, Krisztian, Ujhazi, Boglarka, Blazso, Peter, Herrera, Jose L, Tipton, Christopher M, Kawai, Tomoki, Gordon, Sumai, Ellison, Maryssa, Wu, Kevin, Stowell, Matthew, Haynes, Lauren, Cruz, Rachel, Zakota, Bence, Nguyen, Johnny, Altrich, Michelle, Geier, Christoph B, Sharapova, Svetlana, Dasso, Joseph F, Leiding, Jennifer W, Smith, Grace, Al-Herz, Waleed, de Barros Dorna, Mayra, Fadugba, Olajumoke, Fronkova, Eva, Kanderova, Veronika, Svaton, Michael, Henrickson, Sarah E, Hernandez, Joseph D, Kuijpers, Taco, Kandilarova, Snezhina Mihailova, Naumova, Elizaveta, Milota, Tomas, Sediva, Anna, Moshous, Despina, Neven, Benedicte, Saco, Tara, Sargur, Ravishankar, Savic, Sinisa, Sleasman, John, Sunkersett, Gauri, Ward, Brant R, Komatsu, Masanobu, Pittaluga, Stefania, Kumanovics, Attila, Butte, Manish J, Cancro, Michael P, Pillai, Shiv, Meffre, Eric, Notarangelo, Luigi D, and Walter, Jolan E
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Biotechnology ,Infectious Diseases ,1.1 Normal biological development and functioning ,Underpinning research ,B-Lymphocytes ,Cell Differentiation ,DNA-Binding Proteins ,Homeodomain Proteins ,Humans ,Immune Tolerance ,Lymphocyte Count ,Nuclear Proteins ,Immunology - Abstract
The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the primary B cell receptor repertoire and pruning self-reactive clones via receptor editing in the bone marrow; however, the impact of RAG1/RAG2 on peripheral tolerance is unknown. Partial RAG deficiency (pRD) manifesting with late-onset immune dysregulation represents an 'experiment of nature' to explore this conundrum. By studying B cell development and subset-specific repertoires in pRD, we demonstrate that reduced RAG activity impinges on peripheral tolerance through the generation of a restricted primary B cell repertoire, persistent antigenic stimulation and an inflammatory milieu with elevated B cell-activating factor. This unique environment gradually provokes profound B cell dysregulation with widespread activation, remarkable extrafollicular maturation and persistence, expansion and somatic diversification of self-reactive clones. Through the model of pRD, we reveal a RAG-dependent 'domino effect' that impacts stringency of tolerance and B cell fate in the periphery.
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- 2022
9. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
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Astrid Marchal, Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett, Yu Zhang, Ivana Nemes-Bokun, Mariya Kalinova, Andrew Catchpole, Stuart G. Tangye, András N. Spaan, Justin B. Lack, Jade Ghosn, Charles Burdet, Guy Gorochov, Florence Tubach, Pierre Hausfater, Clifton L. Dalgard, Shen-Ying Zhang, Qian Zhang, Christopher Chiu, Jacques Fellay, Joseph J. Grzymski, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Ali Amara, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Lisa M. Arkin, Hagit Baris Feldman, Paul Bastard, Alexandre Belot, Catherine M. Biggs, Dusan Bogunovic, Anastasiia Bondarenko, Alessandro Borghesi, Ahmed A. Bousfiha, Petter Brodin, Yenan Bryceson, Manish J. Butte, Giorgio Casari, John Christodoulou, Roger Colobran, Antonio Condino-Neto, Stefan N. Constantinescu, Megan A. Cooper, Murkesh Desai, Beth A. Drolet, Xavier Duval, Jamila El Baghdadi, Philippine Eloy, Sara Espinosa-Padilla, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Elena W.Y. Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Emmanuelle Jouanguy, Elżbieta Kaja, Timokratis Karamitros, Kai Kisand, Cheng-Lung Ku, Yu-Lung Lau, Yun Ling, Carrie L. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, France Mentré, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F.P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O'Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarström, Jean W. Pape, Rebeca Perez de Diego, Jordi Perez-Tur, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Anne Puel, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Laurent Renia, Igor Resnick, Carlos Rodríguez-Gallego, Anna Sediva, Mikko R.J. Seppänen, Mohammad Shahrooei, Anna Shcherbina, Ondrej Slaby, Andrew L. Snow, Pere Soler-Palacín, Vassili Soumelis, Ivan Tancevski, Ahmad Abou Tayoun, Şehime Gülsün Temel, Christian Thorball, Pierre Tiberghien, Sophie Trouillet-Assant, Stuart E. Turvey, K. M. Furkan Uddin, Mohammed J. Uddin, Diederik van de Beek, Donald C. Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Pawel Zawadzki, Serge Bureau, Yannick Vacher, Anne Gysembergh-Houal, Lauren Demerville, Abla Benleulmi-Chaachoua, Sebastien Abad, Radhiya Abassi, Abdelrafie Abdellaoui, Abdelkrim Abdelmalek, Hendy Abdoul, Helene Abergel, Fariza Abeud, Sophie Abgrall, Noemie Abisror, Marylise Adechian, Nordine Aderdour, Hakeem Farid Admane, Frederic Adnet, Sara Afritt, Helene Agostini, Claire Aguilar, Sophie Agut, Tommaso Francesco Aiello, Marc Ait Kaci, Hafid Ait Oufella, Gokula Ajeenthiravasan, Virginie Alauzy, Fanny Alby-Laurent, Lucie Allard, Marie-Alexandra Alyanakian, Blanca Amador Borrero, Sabrina Amam, Lucile Amrouche, Marc Andronikof, Dany Anglicheau, Nadia Anguel, Djillali Annane, Mohammed Aounzou, Caroline Aparicio, Gladys Aratus, Jean-Benoit Arlet, Jeremy Arzoine, Elisabeth Aslangul, Mona Assefi, Adeline Aubry, Laetitia Audiffred, Etienne Audureau, Christelle Nathalie Auger, Jean-Charles Auregan, Celine Awotar, Sonia Ayllon Milla, Delphine Azan, Laurene Azemar, Billal Azzouguen, Marwa Bachir Elrufaai, Aïda Badsi, Prissile Bakouboula, Coline Balcerowiak, Fanta Balde, Elodie Baldivia, Eliane-Flore Bangamingo, Amandine Baptiste, Fanny Baran-Marszak, Caroline Barau, Nathalie Barget, Flore Baronnet, Romain Barthelemy, Jean-Luc Baudel, Camille Baudry, Elodie Baudry, Laurent Beaugerie, Adel Belamri, Nicolas Belaube, Rhida Belilita, Pierre Bellassen, Rawan Belmokhtar, Isabel Beltran, Ruben Benainous, Mourad Benallaoua, Robert Benamouzig, Amélie Benbara, Jaouad Benhida, Anis Benkhelouf, Jihene Benlagha, Chahinez Benmostafa, Skander Benothmane, Miassa Bentifraouine, Laurence Berard, Quentin Bernier, Enora Berti, Astrid Bertier, Laure Berton, Simon Bessis, Alexandra Beurton, Celine Bianco, Clara Bianquis, Frank Bidar, Philippe Blanche, Clarisse Blayau, Alexandre Bleibtreu, Emmanuelle Blin, Coralie Bloch-Queyrat, Marie-Christophe Boissier, Diane Bollens, Marion Bolzoni, Rudy pierre Bompard, Nicolas Bonnet, Justine Bonnouvrier, Shirmonecrystal Botha, Wissam Boucenna, Fatiha Bouchama, Olivier Bouchaud, Hanane Bouchghoul, Taoueslylia Boudjebla, Noel Boudjema, Catherine Bouffard, Adrien Bougle, Meriem Bouguerra, Leila Bouras, Agnes Bourcier, Anne Bourgarit Durand, Anne Bourrier, Fabrice Bouscarat, Diane Bouvry, Nesrine Bouziri, Ons Bouzrara, Sarah Bribier, Delphine Brugier, Melanie Brunel, Eida Bui, Anne Buisson, Iryna Bukreyeva, Côme Bureau, Jacques Cadranel, Johann Cailhol, Ruxandra Calin, Clara Campos Vega, Pauline Canavaggio, Marta Cancella, Delphine Cantin, Albert Cao, Lionel Carbillon, Nicolas Carlier, Clementine Cassard, Guylaine Castor, Marion Cauchy, Olivier Cha, Benjamin Chaigne, Salima Challal, Karine Champion, Patrick Chariot, Julie Chas, Simon Chauveau, Anthony Chauvin, Clement Chauvin, Nathalie Chavarot, Kamélia Chebbout, Mustapha Cherai, Ilaria Cherubini, Amelie Chevalier, Thibault Chiarabini, Thierry Chinet, Richard Chocron, Pascaline Choinier, Juliette Chommeloux, Christophe Choquet, Laure Choupeaux, Benjamin Chousterman, Dragosmarius Ciocan, Ada Clarke, Gaëlle Clavere, Florian Clavier, Karine Clement, Sebastien Clerc, Yves Cohen, Fleur Cohen, Adrien Cohen, Audrey Coilly, Hester Colboc, Pauline Colin, Magalie Collet, Chloé Comarmond, Emeline Combacon, Alain Combes, Celine Comparon, Jean-Michel Constantin, Hugues Cordel, Anne-Gael Cordier, Adrien Costantini, Nathalie Costedoat Chalumeau, Camille Couffignal, Doriane Coupeau, Alain Creange, Yannie Cuvillier Lamarre, Charlène Da Silveira, Sandrine Dautheville Guibal El Kayani, Nathalie De Castro, Yann De Rycke, Lucie Del Pozo, Quentin Delannoy, Mathieu Delay, Robin Deleris, Juliette Delforge, Laëtitia Delphine, Noemie Demare, Sophie Demeret, Alexandre Demoule, Aurore Deniau, François Depret, Sophie Derolez, Ouda Derradji, Nawal Derridj, Vincent Descamps, Lydia Deschamps, Celine Desconclois, Cyrielle Desnos, Karine Desongins, Robin Dhote, Benjamin Diallo, Morgane Didier, Myriam Diemer, Stephane Diez, Juliette Djadi-Prat, Fatima-Zohra Djamouri Monnory, Siham Djebara, Naoual Djebra, Minette Djietcheu, Hadjer Djillali, Nouara Djouadi, Severine Donneger, Catarina Dos Santos, Nathalie Dournon, Martin Dres, Laura Droctove, Marie Drogrey, Margot Dropy, Elodie Drouet, Valérie Dubosq, Evelyne Dubreucq, Estelle Dubus, Boris Duchemann, Thibault Duchenoy, Emmanuel Dudoignon, Romain Dufau, Florence Dumas, Clara Duran, Emmanuelle Duron, Antoine Durrbach, Claudine Duvivier, Nathan Ebstein, Jihane El Khalifa, Alexandre Elabbadi, Caroline Elie, Gabriel Ernotte, Anne Esling, Martin Etienne, Xavier Eyer, Muriel Sarah Fartoukh, Takoua Fayali, Marion Fermaut, Arianna Fiorentino, Souha Fliss, Marie-Céline Fournier, Benjamin Fournier, Hélène Francois, Olivia Freynet, Yvann Frigout, Isaure Fromont, Axelle Fuentes, Thomas Furet, Joris Galand, Marc Garnier, Agnes Gaubert, Stéphane Gaudry, Samuel Gaugain, Damien Gauthier, Maxime Gautier, Sophie Georgin-Lavialle, Daniela Geromin, Mohamed Ghalayini, Bijan Ghaleh, Myriam Ghezal, Aude Gibelin, Linda Gimeno, Benoit Girard, Bénédicte Giroux Leprieur, Doryan Gomes, Elisabete Gomes-Pires, Anne Gouge, Amel Gouja, Helene Goulet, Sylvain Goupil, Jeanne Goupil De Bouille, Julien Gras, Segolene Greffe, Lamiae Grimaldi, Paul Guedeney, Bertrand Guidet, Matthias Guillo, Mariechristelle Gulczynski, Tassadit Hadjam, Didier Haguenauer, Soumeya Hammal, Nadjib Hammoudi, Olivier Hanon, Anarole Harrois, Coraline Hautem, Guillaume Hekimian, Nicholas Heming, Olivier Hermine, Sylvie Ho, Marie Houllier, Benjamin Huot, Tessa Huscenot, Wafa Ibn Saied, Ghilas Ikherbane, Meriem Imarazene, Patrick Ingiliz, Lina Iratni, Stephane Jaureguiberry, Jean-Francois Jean-Marc, Deleena Jeyarajasingham, Pauline Jouany, Veronique Jouis, Clement Jourdaine, Ouifiya Kafif, Rim Kallala, Sandrine Katsahian, Lilit Kelesyan, Vixra Keo, Flora Ketz, Warda Khamis, Enfel Khelili, Mehdi Khellaf, Christy Gaëlla Kotokpo Youkou, Ilias Kounis, Gaelle Kpalma, Jessica Krause, Vincent Labbe, Karine Lacombe, Jean-Marc Lacorte, Anne Gaelle Lafont, Emmanuel Lafont, Lynda Lagha, Lionel Lamhaut, Aymeric Lancelot, Cecilia Landman, Fanny Lanternier, Cecile Larcheveque, Caroline Lascoux Combe, Ludovic Lassel, Benjamin Laverdant, Christophe Lavergne, Jean-Rémi Lavillegrand, Pompilia Lazureanu, Loïc Le Guennec, Lamia Leberre, Claire Leblanc, Marion Leboyer, Francois Lecomte, Marine Lecorre, Romain Leenhardt, Marylou Lefebvre, Bénédicte Lefebvre, Paul Legendre, Anne Leger, Laurence Legros, Justyna Legrosse, Sébastien Lehuunghia, Julien Lemarec, Jeremie Leporrier-Ext, Manon Lesein, Hubert Lesur, Vincent Levy, Albert Levy, Edwige Lopes, Amanda Lopes, Vanessa Lopez, Julien Lopinto, Olivier Lortholary, Badr Louadah, Bénédicte Loze, Marie-Laure Lucas, Axelle Lucasamichi, Liem Binh Luong, Arouna Magazimama-Ext, David Maingret, Lakhdar Mameri, Philippe Manivet, Cylia Mansouri, Estelle Marcault, Jonathan Marey, Nathalie Marin, Clémence Marois, Olivier Martin, Lou Martineau, Cannelle Martinez-Lopez, Pierre Martyniuck, Pauline Mary De Farcy, Nessrine Marzouk, Rafik Masmoudi, Alexandre Mebazaa, Frédéric Mechai, Fabio Mecozzi, Chamseddine Mediouni, Bruno Megarbane, Mohamed Meghadecha, Élodie Mejean, Arsene Mekinian, Nour Mekki Abdelhadi, Rania Mekni, Thinhinan Sabrina Meliti, Breno Melo Lima, Paris Meng, Soraya Merbah, Fadhila Messani, Yasmine Messaoudi, Baboo-Irwinsingh Mewasing, Lydia Meziane, Carole Michelot-Burger, Françoise Mignot, Fadi Hillary Minka, Makoto Miyara, Pierre Moine, Jean-Michel Molina, Anaïs Montegnies-Boulet, Alexandra Monti, Claire Montlahuc, Anne-Lise Montout, Alexandre Moores, Caroline Morbieu, Helene Mortelette, Stéphane Mouly, Rosita Muzaffar, Cherifa Iness Nacerddine, Marine Nadal, Hajer Nadif, Kladoum Nassarmadji, Pierre Natella, Sandrine Ndingamondze, Stefan Neraal, Caroline Nguyen, Bao N'Guyen, Isabelle Nion Larmurier, Luc Nlomenyengue, Nicolas Noel, Hilario Nunes, Edris Omar, Zineb Ouazene, Elise Ouedraogo, Wassila Ouelaa, Anissa Oukhedouma, Yasmina Ould Amara, Herve Oya, Johanna Oziel, Thomas Padilla, Elena Paillaud, Solenne Paiva, Beatrice Parfait, Perrine Parize, Christophe Parizot, Antoine Parrot, Arthur Pavot, Laetitia Peaudecerf, Frédéric Pene, Marion Pepin, Julie Pernet, Claire Pernin, Mylène Petit, Olivier Peyrony, Marie-Pierre Pietri, Olivia Pietri, Marc Pineton De Chambrun, Michelle Pinson, Claire Pintado, Valentine Piquard, Christine Pires, Benjamin Planquette, Sandrine Poirier, Anne-Laure Pomel, Stéphanie Pons, Diane Ponscarme, Annegaelle Pourcelot, Valérie Pourcher, Anne Pouvaret, Florian Prever, Miresta Previlon, Margot Prevost, Marie-Julie Provoost, Cyril Quemeneur, Cédric Rafat, Agathe Rami, Brigitte Ranque, Maurice Raphael, Jean Herle Raphalen, Anna Rastoin, Mathieu Raux, Amani Rebai, Michael Reby, Alexis Regent, Asma Regrag, Matthieu Resche-Rigon, Quentin Ressaire, Christian Richard, Mariecaroline Richard, Maxence Robert, Benjamin Rohaut, Camille Rolland-Debord, Jacques Ropers, Anne-Marie Roque-Afonso, Charlotte Rosso, Mélanie Rousseaux, Nabila Rousseaux, Swasti Roux, Lorène Roux, Claire Rouzaud, Antoine Rozes, Emma Rubenstein, Jean-Marc Sabate, Sheila Sabet, Sophie-Caroline Sacleux, Nathalie Saidenberg Kermanach, Faouzi Saliba, Dominique Salmon, Laurent Savale, Guillaume Savary, Rebecca Sberro, Anne Scemla, Frederic Schlemmer, Mathieu Schwartz, Saïd Sedfi, Samia Sefir-Kribel, Philippe Seksik, Pierre Sellier, Agathe Selves, Nicole Sembach, Luca Semerano, Marie-Victoire Senat, Damien Sene, Alexandra Serris, Lucile Sese, Naima Sghiouar, Johanna Sigaux, Martin Siguier, Johanne Silvain, Noémie Simon, Tabassome Simon, Lina Innes Skandri, Miassa Slimani, Aurélie Snauwaert, Harry Sokol, Heithem Soliman, Nisrine Soltani, Benjamin Soyer, Gabriel Steg, Lydia Suarez, Tali-Anne Szwebel, Kossi Taffame, Yacine Tandjaoui-Lambiotte, Claire Tantet, Mariagrazia Tateo, Igor Theodose, Pierre clement Thiebaud, Caroline Thomas, Kelly Tiercelet, Julie Tisserand, Carole Tomczak, Krystel Torelino, Fatima Touam-Ext, Lilia Toumi, 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Castro, Emilie Catherinot, Jale Bengi Celik, Alessandro Ceschi, Martin Chalumeau, Bruno Charbit, Cécile Boulanger, Père Clavé, Bonaventura Clotet, Anna Codina, Cloé Comarmond, Patrizia Comoli, Angelo G. Corsico, Taner Coşkuner, Aleksandar Cvetkovski, Cyril Cyrus, David Dalmau, François Danion, David Ross Darley, Vincent Das, Nicolas Dauby, Stéphane Dauger, Paul De Munte, Loic de Pontual, Amin Dehban, Geoffroy Delplancq, Isabelle Desguerre, Antonio Di Sabatino, Jean-Luc Diehl, Stephanie Dobbelaere, Elena Domínguez-Garrido, Clément Dubost, Olov Ekwall, Şefika Elmas Bozdemir, Marwa H. Elnagdy, Melike Emiroglu, Akifumi Endo, Emine Hafize Erdeniz, Selma Erol Aytekin, Maria Pilar Etxart Lasa, Romain Euvrard, Giovanna Fabio, Laurence Faivre, Antonin Falck, Muriel Fartoukh, Morgane Faure, Miguel Fernandez Arquero, Ricard Ferrer, Jose Ferreres, Bruno Francois, Victoria Fumadó, Kitty S.C. Fung, Francesca Fusco, Alenka Gagro, Blanca Garcia Solis, Pierre Garçon, Pascale Gaussem, Zeynep Gayretli, Juana Gil-Herrera, Laurent Gilardin, Audrey Giraud Gatineau, Mònica Girona-Alarcón, Karen Alejandra Cifuentes Godínez, Jean-Christophe Goffard, Nacho Gonzales, Luis I. Gonzalez-Granado, Rafaela González-Montelongo, Antoine Guerder, Belgin Gülhan, Victor Daniel Gumucio, Leif Gunnar Hanitsch, Jan Gunst, Marta Gut, Jérôme Hadjadj, Selda Hancerli, Tetyana Hariyan, Nevin Hatipoglu, Deniz Heppekcan, Elisa Hernandez-Brito, Po-ki Ho, María Soledad Holanda-Peña, Juan P. Horcajada, Sami Hraiech, Linda Humbert, Ivan F.N. Hung, Alejandro D. Iglesias, Antonio Íñigo-Campos, Matthieu Jamme, María Jesús Arranz, Marie-Thérèse Jimeno, Iolanda Jordan, Saliha Kanık-Yüksek, Yalcin Kara, Aydın Karahan, Adem Karbuz, Kadriye Kart Yasar, Ozgur Kasapcopur, Kenichi Kashimada, Sevgi Keles, Yasemin Kendir Demirkol, Yasutoshi Kido, Can Kizil, Ahmet Osman Kılıç, Adam Klocperk, Antonia Koutsoukou, Zbigniew J. Król, Hatem Ksouri, Paul Kuentz, Arthur M.C. Kwan, Yat Wah M. Kwan, Janette S.Y. Kwok, Jean-Christophe Lagier, David S.Y. Lam, Vicky Lampropoulou, Fleur Le Bourgeois, Yee-Sin Leo, Rafael Leon Lopez, Daniel Leung, Michael Levin, Michael Levy, Romain Lévy, Zhi Li, Daniele Lilleri, Edson Jose Adrian Bolanos Lima, Agnes Linglart, Eduardo López-Collazo, José M. Lorenzo-Salazar, Céline Louapre, Catherine Lubetzki, Kwok-Cheung Lung, Charles-Edouard Luyt, David C. Lye, Cinthia Magnone, Enrico Marchioni, Carola Marioli, Majid Marjani, Laura Marques, Jesus Marquez Pereira, Andrea Martín-Nalda, David Martínez Pueyo, Javier Martinez-Picado, Iciar Marzana, Carmen Mata-Martínez, Alexis Mathian, Larissa R.B. Matos, Gail V. Matthews, Julien Mayaux, Raquel McLaughlin-Garcia, Philippe Meersseman, Jean-Louis Mège, Armand Mekontso-Dessap, Isabelle Melki, Federica Meloni, Jean-François Meritet, Paolo Merlani, Özge Metin Akcan, Mehdi Mezidi, Isabelle Migeotte, Maude Millereux, Matthieu Million, Tristan Mirault, Clotilde Mircher, Mehdi Mirsaeidi, Yoko Mizoguchi, Bhavi P. Modi, Francesco Mojoli, Elsa Moncomble, Abián Montesdeoca Melián, Antonio Morales Martinez, Francisco Morandeira, Pierre-Emmanuel Morange, Clémence Mordacq, Guillaume Morelle, Stéphane J. Mouly, Adrián Muñoz-Barrera, Cyril Nafati, Shintaro Nagashima, Yu Nakagama, Bénédicte Neven, João Farela Neves, Yuk-Yung Ng, Hubert Nielly, Yeray Novoa Medina, Esmeralda Nuñez Cuadros, Semsi Nur Karabela, J. Gonzalo Ocejo-Vinyals, Mehdi Oualha, Amani Ouedrani, Tayfun Özçelik, Aslinur Ozkaya-Parlakay, Michele Pagani, Maria Papadaki, Philippe Parola, Tiffany Pascreau, Stéphane Paul, Estela Paz-Artal, Sigifredo Pedraza, Nancy Carolina González Pellecer, Silvia Pellegrini, Rebeca Pérez de Diego, Xosé Luis Pérez-Fernández, Aurélien Philippe, Quentin Philippot, Adrien Picod, Marc Pineton de Chambrun, Antonio Piralla, Laura Planas-Serra, Dominique Ploin, Julien Poissy, Géraldine Poncelet, Garyphallia Poulakou, Marie S. Pouletty, Persia Pourshahnazari, Jia Li Qiu-Chen, Paul Quentric, Thomas Rambaud, Didier Raoult, Violette Raoult, Anne-Sophie Rebillat, Claire Redin, Léa Resmini, Pilar Ricart, Jean-Christophe Richard, Raúl Rigo-Bonnin, Nadia Rivet, Jacques G. Rivière, Gemma Rocamora-Blanch, Mathieu P. 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Hermans, Leo Heunks, Markus Hollmann, Janneke Horn, Joppe W. Hovius, Menno D. de Jong, Rutger Koning, Endry H.T. Lim, Niels van Mourik, Jeaninne Nellen, Esther J. Nossent, Frederique Paulus, Edgar Peters, Dan A.I. Pina-Fuentes, Tom van der Poll, Bennedikt Preckel, Jan M. Prins, Jorinde Raasveld, Tom Reijnders, Maurits C.F. J. de Rotte, Michiel Schinkel, Marcus J. Schultz, Femke A.P. Schrauwen, Alex Schuurmans, Jaap Schuurmans, Kim Sigaloff, Marleen A. Slim, Patrick Smeele, Marry Smit, Cornelis S. Stijnis, Willemke Stilma, Charlotte Teunissen, Patrick Thoral, Anissa M. Tsonas, Pieter R. Tuinman, Marc van der Valk, Denise P. Veelo, Carolien Volleman, Heder de Vries, Lonneke A. Vught, Michèle van Vugt, Dorien Wouters, A.H. Zwinderman, Matthijs C. Brouwer, W. Joost Wiersinga, Alexander P.J. Vlaar, Miranda F. Tompkins, Camille Alba, Daniel N. Hupalo, John Rosenberger, Gauthaman Sukumar, Matthew D. Wilkerson, Xijun Zhang, Justin Lack, Andrew J. Oler, Kerry Dobbs, Ottavia M. Delmonte, Jeffrey J. Danielson, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Ilaria Beretta, Luisa Imberti, Alessandra Sottini, Virginia Quaresima, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, and Gian Luigi Marseglia
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HLA ,association ,asymptomatic infection ,COVID-19 ,population stratification ,Genetics ,QH426-470 - Abstract
Summary: Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-CoV-2 infection in unvaccinated individuals was recently reported, suggesting a contribution of pre-existing T cell-dependent adaptive immunity. We report a lack of association of classical HLA alleles, including HLA-B∗15:01, with pre-omicron asymptomatic SARS-CoV-2 infection in unvaccinated participants in a prospective population-based study in the United States (191 asymptomatic vs. 945 symptomatic COVID-19 cases). Moreover, we found no such association in the international COVID Human Genetic Effort cohort (206 asymptomatic vs. 574 mild or moderate COVID-19 cases and 1,625 severe or critical COVID-19 cases). Finally, in the Human Challenge Characterisation study, the three HLA-B∗15:01 individuals infected with SARS-CoV-2 developed symptoms. As with other acute primary infections studied, no classical HLA alleles favoring an asymptomatic course of SARS-CoV-2 infection were identified.
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- 2024
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10. Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition
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Parackova, Zuzana, Vrabcova, Petra, Zentsova, Irena, Sediva, Anna, and Bloomfield, Marketa
- Published
- 2023
- Full Text
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11. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
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Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Guibal El Kayani, Sandrine Dautheville, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Djamouri Monnory, Fatima-Zohra, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Santos, Catarina Dos, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, El Khalifa, Jihane, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel Sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, 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Ghilas, Imarazene, Meriem, Ingiliz, Patrick, Iratni, Lina, Jaureguiberry, Stephane, Jean-Marc, Jean-Francois, Jeyarajasingham, Deleena, Jouany, Pauline, Jouis, Veronique, Jourdaine, Clement, Kafif, Ouifiya, Kallala, Rim, Katsahian, Sandrine, Kelesyan, Lilit, Keo, Vixra, Ketz, Flora, Khamis, Warda, Khelili, Enfel, Khellaf, Mehdi, Kotokpo Youkou, Christy Gaëlla, Kounis, Ilias, Kpalma, Gaelle, Krause, Jessica, Labbe, Vincent, Lacombe, Karine, Lacorte, Jean-Marc, Lafont, Anne Gaelle, Lafont, Emmanuel, Lagha, Lynda, Lamhaut, Lionel, Lancelot, Aymeric, Landman, Cecilia, Lanternier, Fanny, Larcheveque, Cecile, Combe, Caroline Lascoux, Lassel, Ludovic, Laverdant, Benjamin, Lavergne, Christophe, Lavillegrand, Jean-Rémi, Lazureanu, Pompilia, Le Guennec, Loïc, Leberre, Lamia, Leblanc, Claire, Leboyer, Marion, Lecomte, Francois, Lecorre, Marine, Leenhardt, Romain, Lefebvre, Marylou, Lefebvre, Bénédicte, Legendre, Paul, Leger, Anne, Legros, Laurence, Legrosse, Justyna, Lehuunghia, Sébastien, 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Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Elharrar, Brigitte, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean-Christophe, Malvy, Denis, Mambert, Marina, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, van der Werf, Sylvie, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, 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Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Barzaghi, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Cáceres Agra, Juan José, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, Castillo de Vera, Martín, Castro, Mateus V., Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Boulanger, Cécile, Clavé, Père, Clotet, Bonaventura, Codina, Anna, Comarmond, Cloé, Comoli, Patrizia, Corsico, Angelo G., Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munte, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H., Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Etxart Lasa, Maria Pilar, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S.C., Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Garçon, Pierre, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Cifuentes Godínez, Karen Alejandra, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I., González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Gut, Marta, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P., Hraiech, Sami, Humbert, Linda, Hung, Ivan F.N., Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Kanık-Yüksek, Saliha, Kara, Yalcin, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Keles, Sevgi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M.C., Kwan, Yat Wah M., Kwok, Janette S.Y., Lagier, Jean-Christophe, Lam, David S.Y., Lampropoulou, Vicky, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Adrian Bolanos Lima, Edson Jose, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C., Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Martinez-Picado, Javier, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa R.B., Matthews, Gail V., Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P., Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Morange, Pierre-Emmanuel, Mordacq, Clémence, Morelle, Guillaume, Mouly, Stéphane J., Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Yuk-Yung, Hubert Nielly, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Karabela, Semsi Nur, Ocejo-Vinyals, J. Gonzalo, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, González Pellecer, Nancy Carolina, Pellegrini, Silvia, Pérez de Diego, Rebeca, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Philippot, Quentin, Picod, Adrien, Pineton de Chambrun, Marc, Piralla, Antonio, Planas-Serra, Laura, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S., Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, Rivet, Nadia, Rivière, Jacques G., Rocamora-Blanch, Gemma, Rodero, Mathieu P., Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Gallego, Carlos, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Ruiz del Prado, Maria Yolanda, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E., Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M., Smith, Nikaia, Sobh, Ali, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon J., Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Troya, Jesús, Tsang, Owen T.Y., Tserel, Liina, Tso, Eugene Y.K., Tucci, Alessandra, Tüter Öz, Şadiye Kübra, Ursini, Matilde Valeria, Utsumi, Takanori, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Zuniga Veliz, Silvia Patricia, Vidigal, Mateus C., Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie E., Villar-García, Judit, Vincent, Audrey, Van der Linden, Dimitri, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wu, Alan K.L., Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E., Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Van Praet, Jens, Lambrecht, Bart N., Van Braeckel, Eva, Bosteels, Cédric, Hoste, Levi, Hoste, Eric, Bauters, Fré, De Clercq, Jozefien, Heijmans, Catherine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Young, Mary-Anne, Willis, Amanda, Lapuente-Suanzes, Paloma, de Andrés-Martín, Ana, Berkell, Matilda, Carelli, Valerio, Fiorentino, Alessia, Malhotra, Surbhi, Mattiaccio, Alessandro, Pippucci, Tommaso, Seri, Marco, Tacconelli, Evelina, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David T.P., Bugiani, Marianna, Bulle, Esther, Chouchane, Osoul, Cloherty, Alex, Dijkstra, Mirjam, Dongelmans, Dave A., Dujardin, Romein W.G., Elbers, Paul, Fleuren, Lucas, Geerlings, Suzanne, Geijtenbeek, Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin P., Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Hermans, Sabine M., Heunks, Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe W., de Jong, Menno D., Koning, Rutger, Lim, Endry H.T., van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther J., Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan A.I., van der Poll, Tom, Preckel, Bennedikt, Prins, Jan M., Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits C.F. J., Schinkel, Michiel, Schultz, Marcus J., Schrauwen, Femke A.P., Schuurmans, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen A., Smeele, Patrick, Smit, Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M., Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise P., Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A.H., Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P.J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Delmonte, Ottavia M., Danielson, Jeffrey J., Biondi, Andrea, Bettini, Laura Rachele, D’Angiò, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Marchal, Astrid, Cirulli, Elizabeth T., Neveux, Iva, Bellos, Evangelos, Thwaites, Ryan S., Schiabor Barrett, Kelly M., Zhang, Yu, Nemes-Bokun, Ivana, Kalinova, Mariya, Catchpole, Andrew, Lack, Justin B., Chiu, Christopher, and Grzymski, Joseph J.
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- 2024
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12. Long-term treatment with selective PI3Kδ inhibitor leniolisib in adults with activated PI3Kδ syndrome
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Rao, V. Koneti, Kulm, Elaine, Grossman, Jennifer, Buchbinder, David, Chong, Hey, Bradt, Jason, Webster, Sharon, Šedivá, Anna, Dalm, Virgil A., and Uzel, Gulbu
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- 2024
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13. Tumor-necrosis factor α-rich environment alters type-I interferon response to viral stimuli in patients with juvenile idiopathic arthritis by altering myeloid dendritic cell phenotype
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Zentsova, Irena, Klocperk, Adam, Bloomfield, Marketa, Kubesova, Helena, Malcova, Hana, Cebecauerova, Dita, Horvath, Rudolf, Sediva, Anna, and Parackova, Zuzana
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- 2024
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14. B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)
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Adam Klocperk, Marketa Bloomfield, Zuzana Parackova, Ludovic Aillot, Jiri Fremuth, Lumir Sasek, Jan David, Filip Fencl, Aneta Skotnicova, Katerina Rejlova, Martin Magner, Ondrej Hrusak, and Anna Sediva
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PIMS-TS ,MIS-C ,COVID-19 ,Interferon ,BAFF ,APRIL ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) is a late complication of pediatric COVID-19, which follows weeks after the original SARS-CoV-2 infection, regardless of its severity. It is characterized by hyperinflammation, neutrophilia, lymphopenia, and activation of T cells with elevated IFN-γ. Observing the production of autoantibodies and parallels with systemic autoimmune disorders, such as systemic lupus erythematodes (SLE), we explored B cell phenotype and serum levels of type I, II, and III interferons, as well as the cytokines BAFF and APRIL in a cohort of MIS-C patients and healthy children after COVID-19. Results We documented a significant elevation of IFN-γ, but not IFN-α and IFN-λ in MIS-C patients. BAFF was elevated in MIS-C patient sera and accompanied by decreased BAFFR expression on all B cell subtypes. The proportion of plasmablasts was significantly lower in patients compared to healthy post-COVID children. We noted the pre-IVIG presence of ENA Ro60 autoantibodies in 4/35 tested MIS-C patients. Conclusions Our work shows the involvement of humoral immunity in MIS-C and hints at parallels with the pathophysiology of SLE, with autoreactive B cells driven towards autoantibody production by elevated BAFF. Graphical Abstract
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- 2023
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15. B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)
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Klocperk, Adam, Bloomfield, Marketa, Parackova, Zuzana, Aillot, Ludovic, Fremuth, Jiri, Sasek, Lumir, David, Jan, Fencl, Filip, Skotnicova, Aneta, Rejlova, Katerina, Magner, Martin, Hrusak, Ondrej, and Sediva, Anna
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- 2023
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16. Evaluating the Effect of Fatigue on Driver’s Performance
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Jirgl, M., Sediva, S., and Bradac, Z.
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- 2024
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17. Newborn screening for SCID and severe T lymphocytopenia in Europe
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Blom, Maartje, Soomann, Maarja, Soler-Palacín, Pere, Šedivá, Anna, Stray-Pedersen, Asbjørg, Zetterström, Rolf, Speckmann, Carsten, Gennery, Andrew R., and van der Burg, Mirjam
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- 2024
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18. Interim analysis: Open-label extension study of leniolisib for patients with APDS
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Rao, V. Koneti, Kulm, Elaine, Šedivá, Anna, Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Dalm, Virgil A., Trizzino, Antonino, Zharankova, Yulia, Webster, Sharon, Orpia, Alanvin, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Radford, Kath, Bradt, Jason, Relan, Anurag, Holland, Steven M., Lenardo, Michael J., and Uzel, Gulbu
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- 2024
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19. Th1/interferon-γ bias in 22q11.2 deletion syndrome is driven by memory T cells and exacerbated by IL-7
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Vladyka, Ondrej, Vrabcova, Petra, Reiterova, Michaela, Parackova, Zuzana, Haesler, Robert, Sediva, Anna, Kalina, Tomas, and Klocperk, Adam
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- 2023
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20. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
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Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan
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- 2023
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21. Genomic analysis of Paenibacillus larvae isolates from the Czech Republic and the neighbouring regions of Slovakia
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Matiašovic, Ján, Bzdil, Jaroslav, Papežíková, Ivana, Čejková, Darina, Vasina, Evgeniya, Bizos, Jiří, Navrátil, Stanislav, Šedivá, Mária, Klaudiny, Jaroslav, and Pikula, Jiří
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- 2023
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22. Pulsed Field Ablation to Treat Atrial Fibrillation: Autonomic Nervous System Effects
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Musikantow, Daniel R., Neuzil, Petr, Petru, Jan, Koruth, Jacob S., Kralovec, Stepan, Miller, Marc A., Funasako, Mortioshi, Chovanec, Milan, Turagam, Mohit K., Whang, William, Sediva, Lucie, Dukkipati, Srinivias R., and Reddy, Vivek Y.
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- 2023
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23. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
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Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.
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- 2023
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24. A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome
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Rao, V. Koneti, Webster, Sharon, Šedivá, Anna, Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Conlon, Niall, Coulter, Tanya, Dalm, Virgil A., Trizzino, Antonino, Zharankova, Yulia, Kulm, Elaine, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Radford, Kath, Bradt, Jason, Kucher, Klaus, Relan, Anurag, Holland, Steven M., Lenardo, Michael J., and Uzel, Gulbu
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- 2023
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25. Expanded population of low-density neutrophils in juvenile idiopathic arthritis
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Zuzana Parackova, Irena Zentsova, Marketa Bloomfield, Adam Klocperk, Rudolf Horvath, Hana Malcova, Dita Cebecauerova, and Anna Sediva
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juvenile idiopathic arthritis ,neutrophils ,low-density neutrophils ,calprotectin ,activation ,reverse transmigration ,Immunologic diseases. Allergy ,RC581-607 - Abstract
IntroductionJuvenile idiopathic arthritis (JIA), a clinically variable disease characterized by autoimmune arthritis, affects children, and its immunopathology remains elusive. Alterations in neutrophil biology play an important role in this disease. In the present study, we aimed to explore the features of low-density neutrophils (LDNs) in patients with JIA.MethodsGene expression of peripheral blood mononuclear cells (PBMCs) from children with distinct subtypes of JIA was analyzed by NanoString Immunology panel. Presence of LDNs was ascertained by flow cytometry and the release of neutrophil-associated products were analyzed by LUMINEX.ResultsLDNs were detected in patients’ peripheral blood mononuclear cells (PBMCs) after density gradient centrifugation. Transcriptomic analysis of JIA PBMCs revealed that genes related to neutrophil degranulation were markedly upregulated. The number of LDNs and level of their degranulation products increased in patients’ PBMCs and correlated with serum calprotectin, but not with disease activity, sedimentation rate and C-reactive protein (CRP) levels. The phenotypes of LDNs varied from those of normal-density neutrophils and healthy donor LDNs. Phenotypical analysis revealed LDNs are immature and primed population with decreased suppressive capacity. A negative correlation between surface proteins CD62L, CD66b, and CD11b and the number of inflamed joints/JADAS was established.ConclusionOur results describe LDNs as primed, degranulated, immature cells with impaired suppressive activities. This work thus contributes to the increasing body of evidence that LDNs in JIA are altered and their role in the disease immunopathogenesis and possible clinical associations should be investigated further.
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- 2023
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26. Clinical Outcomes, Immunogenicity, and Safety of BNT162b2 Vaccine in Primary Antibody Deficiency
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Milota, Tomas, Smetanova, Jitka, Skotnicova, Aneta, Rataj, Michal, Lastovicka, Jan, Zelena, Hana, Parackova, Zuzana, Fejtkova, Martina, Kanderova, Veronika, Fronkova, Eva, Rejlova, Katerina, Sediva, Anna, and Kalina, Tomas
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- 2023
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27. Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility
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Parackova, Zuzana, Zentsova, Irena, Vrabcova, Petra, Sediva, Anna, and Bloomfield, Marketa
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- 2023
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28. Distinct CD8 T Cell Populations with Differential Exhaustion Profiles Associate with Secondary Complications in Common Variable Immunodeficiency
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Klocperk, Adam, Friedmann, David, Schlaak, Alexandra Emilia, Unger, Susanne, Parackova, Zuzana, Goldacker, Sigune, Sediva, Anna, Bengsch, Bertram, and Warnatz, Klaus
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- 2022
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29. Efficacy and safety of novel temperature-controlled radiofrequency ablation system during pulmonary vein isolation in patients with paroxysmal atrial fibrillation: TRAC-AF study
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Starek, Zdenek, Lehar, Frantisek, Jez, Jiri, Pesl, Martin, Neuzil, Petr, Sediva, Lucie, Petru, Jan, Dujka, Libor, Funasako, Moritoshi, Kautzner, Josef, Peichl, Petr, Aldhoon, Bashar, Albenque, Jean-Paul, Combes, Stephane, Boveda, Serge, Dukkipati, Srinivas R., and Reddy, Vivek Y.
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- 2022
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30. Immunomodulation of neutrophils and platelets by TNF blockage in patients with juvenile idiopathic arthritis
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Parackova, Zuzana, Zentsova, Irena, Horvath, Rudolf, Malcova, Hana, Cebecauerova, Dita, Sediva, Anna, and Klocperk, Adam
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- 2022
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31. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
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Sediva, Anna, Neven, Benedicte, Hauck, Fabian, Warnatz, Klaus, Pac, Malgorzata, Carrabba, Maria, Palacin, Pere, Jandus, Peter, Gardulf, Ann, Mahlaoui, Nizar, Pergent, Martine, Schutz, Catharina, Sharapova, Svetlana, Vassilios, Lougaris, Candotti, Fabio, Volpi, Stephano, Yang, Linlin, Booth, Claire, Speckmann, Carsten, Seidel, Markus G., Worth, Austen J.J., Kindle, Gerhard, Lankester, Arjan C., Grimbacher, Bodo, Gennery, Andrew R., Seppanen, Mikko R.J., Morris, Emma C., and Burns, Siobhan O.
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- 2022
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32. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
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Marchal, A, Cirulli, E, Neveux, I, Bellos, E, Thwaites, R, Schiabor Barrett, K, Zhang, Y, Nemes-Bokun, I, Kalinova, M, Catchpole, A, Tangye, S, Spaan, A, Lack, J, Ghosn, J, Burdet, C, Gorochov, G, Tubach, F, Hausfater, P, Abel, L, Aiuti, A, Al-Muhsen, S, Al-Mulla, F, Amara, A, Anderson, M, Andreakos, E, Arias, A, Arkin, L, Feldman, H, Bastard, P, Belot, A, Biggs, C, Bogunovic, D, Bolze, A, Bondarenko, A, Borghesi, A, Bousfiha, A, Brodin, P, Bryceson, Y, Butte, M, Casanova, J, Casari, G, Christodoulou, J, Cobat, A, Colobran, R, Condino-Neto, A, Constantinescu, S, Cooper, M, Dalgard, C, Desai, M, Drolet, B, Duval, X, El Baghdadi, J, Eloy, P, Espinosa-Padilla, S, Fellay, J, Flores, C, Franco, J, Froidure, A, Gregersen, P, Grimbacher, B, Haerynck, F, Hagin, D, Halwani, R, Hammarstrom, L, Heath, J, Hsieh, E, Husebye, E, Imai, K, Itan, Y, Jouanguy, E, Kaja, E, Karamitros, T, Kisand, K, Ku, C, Lau, Y, Ling, Y, Lucas, C, Maniatis, T, Mansouri, D, Marodi, L, Mentre, F, Meyts, I, Milner, J, Mironska, K, Mogensen, T, Morio, T, Ng, L, Notarangelo, L, Novelli, A, Novelli, G, O'Farrelly, C, Okada, S, Okamoto, K, Ozcelik, T, Pan-Hammarstrom, Q, Pape, J, Perez de Diego, R, Perez-Tur, J, Perlin, D, Pesole, G, Planas, A, Prando, C, Pujol, A, Puel, A, Quintana-Murci, L, Ramaswamy, S, Renia, L, Resnick, I, Rodriguez-Gallego, C, Sancho-Shimizu, V, Sediva, A, Seppanen, M, Shahrooei, M, Shcherbina, A, Slaby, O, Snow, A, Soler-Palacin, P, Soumelis, V, Tancevski, I, Tayoun, A, Temel, S, Thorball, C, Tiberghien, P, Trouillet-Assant, S, Turvey, S, Uddin, K, Uddin, M, van de Beek, D, Vinh, D, von Bernuth, H, Wauters, J, Zatz, M, Zawadzki, P, Zhang, Q, Zhang, S, Bureau, S, Vacher, Y, Gysembergh-Houal, A, Demerville, L, Benleulmi-Chaachoua, A, Abad, S, Abassi, R, Abdellaoui, A, Abdelmalek, A, Abdoul, H, Abergel, H, Abeud, F, Abgrall, S, Abisror, N, Adechian, M, Aderdour, N, Admane, H, Adnet, F, Afritt, S, Agostini, H, Aguilar, C, Agut, S, Aiello, T, Kaci, M, Oufella, H, Ajeenthiravasan, G, Alauzy, V, Alby-Laurent, F, Allard, L, Alyanakian, M, Borrero, B, Amam, S, Amrouche, L, Andronikof, M, Anglicheau, D, Anguel, N, Annane, D, Aounzou, M, Aparicio, C, Aratus, G, Arlet, J, Arzoine, J, Aslangul, E, Assefi, M, Aubry, A, Audiffred, L, Audureau, E, Auger, C, Auregan, J, Awotar, C, Milla, S, Azan, D, Azemar, L, Azzouguen, B, Elrufaai, M, Badsi, A, Bakouboula, P, Balcerowiak, C, Balde, F, Baldivia, E, Bangamingo, E, Baptiste, A, Baran-Marszak, F, Barau, C, Barget, N, Baronnet, F, Barthelemy, R, Baudel, J, Baudry, C, Baudry, E, Beaugerie, L, Belamri, A, Belaube, N, Belilita, R, Bellassen, P, Belmokhtar, R, Beltran, I, Benainous, R, Benallaoua, M, Benamouzig, R, Benbara, A, Benhida, J, Benkhelouf, A, Benlagha, J, Benmostafa, C, Benothmane, S, Bentifraouine, M, Berard, L, Bernier, Q, Berti, E, Bertier, A, Berton, L, Bessis, S, Beurton, A, Bianco, C, Bianquis, C, Bidar, F, Blanche, P, Blayau, C, Bleibtreu, A, Blin, E, Bloch-Queyrat, C, Boissier, M, Bollens, D, Bolzoni, M, Bompard, R, Bonnet, N, Bonnouvrier, J, Botha, S, Boucenna, W, Bouchama, F, Bouchaud, O, Bouchghoul, H, Boudjebla, T, Boudjema, N, Bouffard, C, Bougle, A, Bouguerra, M, Bouras, L, Bourcier, A, Durand, A, Bourrier, A, Bouscarat, F, Bouvry, D, Bouziri, N, Bouzrara, O, Bribier, S, Brugier, D, Brunel, M, Bui, E, Buisson, A, Bukreyeva, I, Bureau, C, Cadranel, J, Cailhol, J, Calin, R, Vega, C, Canavaggio, P, Cancella, M, Cantin, D, Cao, A, Carbillon, L, Carlier, N, Cassard, C, Castor, G, Cauchy, M, Cha, O, Chaigne, B, Challal, S, Champion, K, Chariot, P, Chas, J, Chauveau, S, Chauvin, A, Chauvin, C, Chavarot, N, Chebbout, K, Cherai, M, Cherubini, I, Chevalier, A, Chiarabini, T, Chinet, T, Chocron, R, Choinier, P, Chommeloux, J, Choquet, C, Choupeaux, L, Chousterman, B, Ciocan, D, Clarke, A, Clavere, G, Clavier, F, Clement, K, Clerc, S, Cohen, Y, Cohen, F, Cohen, A, Coilly, A, Colboc, H, Colin, P, Collet, M, Comarmond, C, Combacon, E, Combes, A, Comparon, C, Constantin, J, Cordel, H, Cordier, A, Costantini, A, Chalumeau, N, Couffignal, C, Coupeau, D, Creange, A, Lamarre, Y, Da Silveira, C, Guibal El Kayani, S, De Castro, N, De Rycke, Y, Del Pozo, L, Delannoy, Q, Delay, M, Deleris, R, Delforge, J, Delphine, L, Demare, N, Demeret, S, Demoule, A, Deniau, A, Depret, F, Derolez, S, Derradji, O, Derridj, N, Descamps, V, Deschamps, L, Desconclois, C, Desnos, C, Desongins, K, Dhote, R, Diallo, B, Didier, M, Diemer, M, Diez, S, Djadi-Prat, J, Djamouri Monnory, F, Djebara, S, Djebra, N, Djietcheu, M, Djillali, H, Djouadi, N, Donneger, S, Santos, C, Dournon, N, Dres, M, Droctove, L, Drogrey, M, Dropy, M, Drouet, E, Dubosq, V, Dubreucq, E, Dubus, E, Duchemann, B, Duchenoy, T, Dudoignon, E, Dufau, R, Dumas, F, Duran, C, Duron, E, Durrbach, A, Duvivier, C, Ebstein, N, El Khalifa, J, Elabbadi, A, Elie, C, Ernotte, G, Esling, A, Etienne, M, Eyer, X, Fartoukh, M, Fayali, T, Fermaut, M, Fiorentino, A, Fliss, S, Fournier, M, Fournier, B, Francois, H, Freynet, O, Frigout, Y, Fromont, I, Fuentes, A, Furet, T, Galand, J, Garnier, M, Gaubert, A, Gaudry, S, Gaugain, S, Gauthier, D, Gautier, M, Georgin-Lavialle, S, Geromin, D, Ghalayini, M, Ghaleh, B, Ghezal, M, Gibelin, A, Gimeno, L, Girard, B, Leprieur, B, Gomes, D, Gomes-Pires, E, Gouge, A, Gouja, A, Goulet, H, Goupil, S, De Bouille, J, Gras, J, Greffe, S, Grimaldi, L, Guedeney, P, Guidet, B, Guillo, M, Gulczynski, M, Hadjam, T, Haguenauer, D, Hammal, S, Hammoudi, N, Hanon, O, Harrois, A, Hautem, C, Hekimian, G, Heming, N, Hermine, O, Ho, S, Houllier, M, Huot, B, Huscenot, T, Saied, W, Ikherbane, G, Imarazene, M, Ingiliz, P, Iratni, L, Jaureguiberry, S, Jean-Marc, J, Jeyarajasingham, D, Jouany, P, Jouis, V, Jourdaine, C, Kafif, O, Kallala, R, Katsahian, S, Kelesyan, L, Keo, V, Ketz, F, Khamis, W, Khelili, E, Khellaf, M, Kotokpo Youkou, C, Kounis, I, Kpalma, G, Krause, J, Labbe, V, Lacombe, K, Lacorte, J, Lafont, A, Lafont, E, Lagha, L, Lamhaut, L, Lancelot, A, Landman, C, Lanternier, F, Larcheveque, C, Combe, C, Lassel, L, Laverdant, B, Lavergne, C, Lavillegrand, J, Lazureanu, P, Le Guennec, L, Leberre, L, Leblanc, C, Leboyer, M, Lecomte, F, Lecorre, M, Leenhardt, R, Lefebvre, M, Lefebvre, B, Legendre, P, Leger, A, Legros, L, Legrosse, J, Lehuunghia, S, Lemarec, J, Leporrier-Ext, J, Lesein, M, Lesur, H, Levy, V, Levy, A, Lopes, E, Lopes, A, Lopez, V, Lopinto, J, Lortholary, O, Louadah, B, Loze, B, Lucas, M, Lucasamichi, A, Luong, L, Magazimama-Ext, A, Maingret, D, Mameri, L, Manivet, P, Mansouri, C, Marcault, E, Marey, J, Marin, N, Marois, C, Martin, O, Martineau, L, Martinez-Lopez, C, Martyniuck, P, De Farcy, P, Marzouk, N, Masmoudi, R, Mebazaa, A, Mechai, F, Mecozzi, F, Mediouni, C, Megarbane, B, Meghadecha, M, Mejean, E, Mekinian, A, Abdelhadi, N, Mekni, R, Meliti, T, Lima, B, Meng, P, Merbah, S, Messani, F, Messaoudi, Y, Mewasing, B, Meziane, L, Michelot-Burger, C, Mignot, F, Minka, F, Miyara, M, Moine, P, Molina, J, Montegnies-Boulet, A, Monti, A, Montlahuc, C, Montout, A, Moores, A, Morbieu, C, 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U., Uzunhan Y., Vaittinadaayar P., Valent A., Valentian M., Valin N., Vallet H., Vaz M., Vazquezibarra M. -A., Vedie B., Velly L., Verstuyft C., Viallette C., Vicaut E., Vignes D., Vimpere D., Virlouvet M., Voiriot G., Voisot L., Weiss E., Weiss N., Winchenne A., Yordanov Y., Zafrani L., Zaidan M., Zaidi W., Zak C., Zarhrate-Ghoul A., Zatout O., Zeino S., Zeitouni M., Zemirli N., Zerah L., Zia O., Ziol M., Zolario O., Zuber J., Andrejak C., Angoulvant F., Bachelet D., Bartoli M., Basmaci R., Behillil S., Beluze M., Benkerrou D., Bhavsar K., Bouadma L., Bouchez S., Bouscambert M., Cervantes-Gonzalez M., Chair A., Chirouze C., Coelho A., Couffin-Cadiergues S., d'Ortenzio E., Debray M. -P., Deconinck L., Deplanque D., Descamps D., Desvallee M., Diallo A., Diouf A., Dorival C., Dubos F., Elharrar B., Enouf V., Esperou H., Esposito-Farese M., Devouge E. 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P., Euvrard R., Fabio G., Faivre L., Falck A., Fartoukh M., Faure M., Arquero M. F., Ferrer R., Ferreres J., Francois B., Fumado V., Fung K. S. C., Fusco F., Gagro A., Solis B. G., Garcon P., Gaussem P., Gayretli Z., Gil-Herrera J., Gilardin L., Gatineau A. G., Girona-Alarcon M., Cifuentes Godinez K. A., Goffard J. -C., Gonzales N., Gonzalez-Granado L. I., Gonzalez-Montelongo R., Guerder A., Gulhan B., Gumucio V. D., Hanitsch L. G., Gunst J., Gut M., Hadjadj J., Hancerli S., Hariyan T., Hatipoglu N., Heppekcan D., Hernandez-Brito E., Ho P. -K., Holanda-Pena M. S., Horcajada J. P., Hraiech S., Humbert L., Hung I. F. N., Iglesias A. D., Inigo-Campos A., Jamme M., Arranz M. J., Jimeno M. -T., Jordan I., Kanik-Yuksek S., Kara Y., Karahan A., Karbuz A., Yasar K. K., Kasapcopur O., Kashimada K., Keles S., Demirkol Y. K., Kido Y., Kizil C., Kilic A. O., Klocperk A., Koutsoukou A., Krol Z. J., Ksouri H., Kuentz P., Kwan A. M. C., Kwan Y. W. M., Kwok J. S. Y., Lagier J. -C., Lam D. S. Y., Lampropoulou V., Le Bourgeois F., Leo Y. -S., Lopez R. L., Leung D., Levin M., Levy M., Levy R., Li Z., Lilleri D., Adrian Bolanos Lima E. J., Linglart A., Lopez-Collazo E., Lorenzo-Salazar J. M., Louapre C., Lubetzki C., Lung K. -C., Luyt C. -E., Lye D. C., Magnone C., Marchioni E., Marioli C., Marjani M., Marques L., Pereira J. M., Martin-Nalda A., Pueyo D. M., Martinez-Picado J., Marzana I., Mata-Martinez C., Mathian A., Matos L. R. B., Matthews G. V., Mayaux J., McLaughlin-Garcia R., Meersseman P., Mege J. -L., Mekontso-Dessap A., Melki I., Meloni F., Meritet J. -F., Merlani P., Akcan O. M., Mezidi M., Migeotte I., Millereux M., Million M., Mirault T., Mircher C., Mirsaeidi M., Mizoguchi Y., Modi B. P., Mojoli F., Moncomble E., Melian A. M., Martinez A. M., Morandeira F., Morange P. -E., Mordacq C., Morelle G., Mouly S. J., Munoz-Barrera A., Nafati C., Nagashima S., Nakagama Y., Neven B., Neves J. F., Ng Y. -Y., Hubert Nielly, Medina Y. N., Cuadros E. N., Karabela S. N., Ocejo-Vinyals J. G., Oualha M., Ouedrani A., Ozkaya-Parlakay A., Pagani M., Papadaki M., Parola P., Pascreau T., Paul S., Paz-Artal E., Pedraza S., Gonzalez Pellecer N. C., Pellegrini S., Perez-Fernandez X. L., Philippe A., Philippot Q., Picod A., Pineton de Chambrun M., Piralla A., Planas-Serra L., Ploin D., Poissy J., Poncelet G., Poulakou G., Pouletty M. S., Pourshahnazari P., Qiu-Chen J. L., Quentric P., Rambaud T., Raoult D., Raoult V., Rebillat A. -S., Redin C., Resmini L., Ricart P., Richard J. -C., Rigo-Bonnin R., Rivet N., Riviere J. G., Rocamora-Blanch G., Rodero M. P., Rodrigo C., Rodriguez L. A., Rodriguez-Palmero A., Romero C. S., Rothenbuhler A., Roux D., Rovina N., Rozenberg F., Ruch Y., Ruiz M., Ruiz del Prado M. Y., Ruiz-Rodriguez J. C., Sabater-Riera J., Saks K., Salagianni M., Sanchez O., Sanchez-Montalva A., Sanchez-Ramon S., Schidlowski L., Schluter A., Schmidt J., Schmidt M., Schuetz C., Schweitzer C. E., Scolari F., Seijo L., Seminario A. G., Seng P., Senoglu S., Seppanen M., Llovich A. S., Siguret V., Siouti E., Smadja D. M., Smith N., Sobh A., Solanich X., Sole-Violan J., Soler C., Sozeri B., Stella G. M., Stepanovskiy Y., Stoclin A., Taccone F., Taupin J. -L., Tavernier S. J., Tello L. V., Terrier B., Thiery G., Thorn K., Thumerelle C., Tipu I., Tolstrup M., Tomasoni G., Toubiana J., Alvarez J. T., Triantafyllia V., Troya J., Tsang O. T. Y., Tserel L., Tso E. Y. K., Tucci A., Tuter Oz S. K., Ursini M. V., Utsumi T., Vabres P., Valencia-Ramos J., Van Den Rym A. M., Vandernoot I., Velez-Santamaria V., Zuniga Veliz S. P., Vidigal M. C., Viel S., Villain C., Vilaire-Meunier M. E., Villar-Garcia J., Vincent A., Van der Linden D., Volokha A., Vuotto F., Wauters E., Wu A. K. L., Wu T. -C., Yahsi A., Yesilbas O., Yildiz M., Young B. E., Yukselmis U., Zecca M., Zuccaro V., Van Praet J., Lambrecht B. 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J., Schinkel M., Schultz M. J., Schrauwen F. A. P., Schuurmans A., Schuurmans J., Sigaloff K., Slim M. A., Smeele P., Smit M., Stijnis C. S., Stilma W., Teunissen C., Thoral P., Tsonas A. M., Tuinman P. R., van der Valk M., Veelo D. P., Volleman C., de Vries H., Vught L. A., van Vugt M., Wouters D., Zwinderman A. H., Brouwer M. C., Wiersinga W. J., Vlaar A. P. J., Tompkins M. F., Alba C., Hupalo D. N., Rosenberger J., Sukumar G., Wilkerson M. D., Zhang X., Lack J., Oler A. J., Dobbs K., Delmonte O. M., Danielson J. J., Biondi A., Bettini L. R., D'Angio M., Beretta I., Imberti L., Sottini A., Quaresima V., Quiros-Roldan E., Rossi C., Castagnoli R., Montagna D., Licari A., Marseglia G. L., Chiu C., and Grzymski J. J.
- Abstract
Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-CoV-2 infection in unvaccinated individuals was recently reported, suggesting a contribution of pre-existing T cell-dependent adaptive immunity. We report a lack of association of classical HLA alleles, including HLA-B∗15:01, with pre-omicron asymptomatic SARS-CoV-2 infection in unvaccinated participants in a prospective population-based study in the United States (191 asymptomatic vs. 945 symptomatic COVID-19 cases). Moreover, we found no such association in the international COVID Human Genetic Effort cohort (206 asymptomatic vs. 574 mild or moderate COVID-19 cases and 1,625 severe or critical COVID-19 cases). Finally, in the Human Challenge Characterisation study, the three HLA-B∗15:01 individuals infected with SARS-CoV-2 developed symptoms. As with other acute primary infections studied, no classical HLA alleles favoring an asymptomatic course of SARS-CoV-2 infection were identified.
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- 2024
33. Epidural spinal cord stimulation can facilitate ejaculatory response in spinal cord injury individuals: a report of two cases.
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Rybka, Vojtech, Sediva, Kristyna, Spackova, Lenka, Kolar, Pavel, Bradac, Ondrej, and Kriz, Jiri
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SPINAL cord , *SPINAL cord injuries , *REPRODUCTIVE technology , *CARDIOVASCULAR system , *NEUROGENIC bladder - Abstract
Background: The recovery of autonomic functions and the ability to reproduce in particular is of the highest priority to individuals with spinal cord injury (SCI). The potential of epidural spinal cord stimulation (ESCS) for promoting recovery of sensorimotor functions in the chronic phase of SCI has long been studied. In recent years, several studies have emerged confirming the positive effect of ESCS also on the cardiovascular system and neurogenic bladder and bowel. However, the potential of ESCS in restoring sexual function, especially ejaculation, has not yet been addressed. Case report: Two cases of people with chronic sensorimotor complete SCI in the 4th thoracic spinal segment are presented. Both men were also diagnosed with severe erectile dysfunction and anejaculation. Thanks to ESCS, Participant 1 successfully restored the ejaculatory reflex using PVS in his home environment. His outcome was subsequently verified under clinical conditions. During ESCS, Participant 1 was also able to achieve ejaculation by masturbation; moreover, he conceived a child naturally without the need for IVF. In Participant 2, we then demonstrated the same effect of ESCS on the restoration of the ejaculatory reflex when targeting the stimulation to the same spinal segment. Conclusion: This is the first report on the potential of ESCS for restoring the ability to ejaculate in individuals with complete SCI. Confirmation of these results could significantly reduce the need for assisted reproduction and improve the quality of life of men after SCI in the future. [ABSTRACT FROM AUTHOR]
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- 2024
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34. Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
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Kanderova, Veronika, Svobodova, Tamara, Borna, Simon, Fejtkova, Martina, Martinu, Vendula, Paderova, Jana, Svaton, Michael, Kralova, Jarmila, Fronkova, Eva, Klocperk, Adam, Pruhova, Stepanka, Lee-Kirsch, Min Ae, Hornofova, Ludmila, Koblizek, Miroslav, Novak, Petr, Zimmermannova, Olga, Parackova, Zuzana, Sediva, Anna, Kalina, Tomas, Janda, Ales, Kayserova, Jana, Dvorakova, Marcela, Macek, Milan, Pohunek, Petr, Sedlacek, Petr, Poh, Ashleigh, Ernst, Matthias, Brdicka, Tomas, Hrusak, Ondrej, and Lebl, Jan
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- 2022
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35. Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients
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Bloomfield, Marketa, Parackova, Zuzana, Hanzlikova, Jana, Lastovicka, Jan, and Sediva, Anna
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- 2022
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36. Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome
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Smetanova, Jitka, Milota, Tomas, Rataj, Michal, Bloomfield, Marketa, Sediva, Anna, and Klocperk, Adam
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- 2022
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37. Morpholinium‐Modified, Polyketone‐Based Anion Exchange Membranes for Water Electrolysis
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Dr. Simone Bonizzoni, Diego Stucchi, Tommaso Caielli, Dr. Eva Sediva, Prof. Dr. Michele Mauri, and Prof. Dr. Piercarlo Mustarelli
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Anion Exchange Membrane ,fuel cell ,electrolysis ,hydrogen ,polyketone ,Industrial electrochemistry ,TP250-261 ,Chemistry ,QD1-999 - Abstract
Abstract Water electrolysis is by far the most appealing method to produce green hydrogen. Among the possible technologies, Anion Exchange Membrane (AEM) water electrolyzers are promising in the medium term, as they make it possible to avoid critical and noble materials as catalyst components. However, AEMs are still lacking in performance and stability, which has become the current research focus. Here, we report the facile and inexpensive chemical modification of polyketone (PK) with a functional unit encompassing morpholinium as the positively charged group, and the fabrication of self‐standing membranes. The synthesis products are investigated with an ensemble of physico‐chemical and spectroscopic techniques, including solid‐state and time‐domain NMR, FT‐IR, and thermal analysis. The membranes show good Ion Exchange Capacity values in the range 1.48–2.24 mmol g−1. A preliminary electrolysis test shows that the PK‐based membrane has performance comparable to that of a commercial one.
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- 2023
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38. Post-vaccination immunogenicity of BNT162b2 SARS-CoV-2 vaccine and its predictors in pediatric inflammatory bowel disease
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Bronsky, Jiri, Copova, Ivana, Durilova, Marianna, Kazeka, Denis, Kubat, Michal, Lerchova, Tereza, Vlckova, Eva, Mitrova, Katarina, Rataj, Michal, Klocperk, Adam, Sediva, Anna, and Hradsky, Ondrej
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- 2022
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39. Deuxième analyse intermédiaire d’une étude en ouvert du Leniolisib dans le syndrome PI3Kδ activée : efficacité et tolérance long terme
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Rao, V.K., primary, Sediva, A., additional, Dalm, V., additional, Alessandro, P., additional, Catharina, S., additional, Shcherbina, A., additional, Trizzino, A., additional, Kulm, E., additional, Zharankova, Y., additional, Körholz, J., additional, Lougaris, V., additional, Rodina, J., additional, Bradt, J., additional, Webster, S., additional, Alanvin, O., additional, Vandier, D., additional, Amores, X., additional, Relan, A., additional, and Gulbu, U., additional
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- 2024
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- View/download PDF
40. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio
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Aiuti, Alessandro, Belot, Alexandre, Bolze, Alexandre, Bondarenko, Anastasiia, Sediva, Anna, Shcherbina, Anna, Planas, Anna M., Condino-Neto, Antonio, Pujol, Aurora, Drolet, Beth A., Catherine, Biggs, Flores, Carlos, Rodríguez-Gallego, Carlos, Prando, Carolina, Dalgard, Clifton L., O'Farrelly, Cliona, Roger, Colobran, Mansouri, Davoud, van de Beek, Diederik, Vinh, Donald C., Hsieh, Elena, Andreakos, Evangelos, Haerynck, Filomeen, Uddin, Furkan, Casari, Giorgio, Novelli, Giuseppe, Pesole, Graziano, Meyts, Isabelle, Tancevski, Ivan, Fellay, Jacques, Casanova, Jean-Laurent, Tur, Jordi, Kisand, Kai, Okamoto, Keisuke, Mironska, Kristina, Abel, Laurent, Renia, Laurent, Ng, Lisa F.P., Shahrooei, Mohammed, Soler-Palacín, Pere, Brodin, Petter, Pan-Hammarström, Qiang, Halwani, Rabih, Perez de Diego, Rebeca, Al-Muhsen, Saleh, Espinosa-Padilla, Sara, Okada, Satoshi, Ozcelik, Tayfun, Tayoun, Ahmad Abou, Karamitros, Timokratis, Mogensen, Trine H., Lau, Yu-Lung, Arkin, Lisa M., Moon, John J., Tran, Jennifer M., Asgari, Samira, O’Farrelly, Cliona, Cowen, Edward W., Mays, Jacqueline W., and Singh, Anne Marie
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- 2021
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41. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
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Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan
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- 2021
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42. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
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Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, Dmitry Balashov, Zsuzsanna Bata, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Judit Bidló, Péter Blazsó, Bertrand Boisson, Mikhail Bolkov, Anastasia Bondarenko, Oksana Boyarchuk, Anna Bundschu, Jean-Laurent Casanova, Liudmyla Chernishova, Peter Ciznar, Ildikó Csürke, Melinda Erdős, Henriette Farkas, Daria S. Fomina, Nermeen Galal, Vera Goda, Sukru Nail Guner, Péter Hauser, Natalya I. Ilyina, Teona Iremadze, Sevan Iritsyan, Vlora Ismaili-Jaha, Milos Jesenak, Jadranka Kelecic, Sevgi Keles, Gerhard Kindle, Irina V. Kondratenko, Larysa Kostyuchenko, Elena Kovzel, Gergely Kriván, Georgina Kuli-Lito, Gábor Kumánovics, Natalja Kurjane, Elena A. Latysheva, Tatiana V. Latysheva, István Lázár, Gasper Markelj, Maja Markovic, László Maródi, Vafa Mammadova, Márta Medvecz, Noémi Miltner, Kristina Mironska, Fred Modell, Vicki Modell, Bernadett Mosdósi, Anna A. Mukhina, Marianna Murdjeva, Györgyi Műzes, Umida Nabieva, Gulnara Nasrullayeva, Elissaveta Naumova, Kálmán Nagy, Beáta Onozó, Bubusaira Orozbekova, Malgorzata Pac, Karaman Pagava, Alexander N. Pampura, Srdjan Pasic, Mery Petrosyan, Gordana Petrovic, Lidija Pocek, Andrei P. Prodeus, Ismail Reisli, Krista Ress, Nima Rezaei, Yulia A. Rodina, Alexander G. Rumyantsev, Svetlana Sciuca, Anna Sediva, Margit Serban, Svetlana Sharapova, Anna Shcherbina, Brigita Sitkauskiene, Irina Snimshchikova, Shqipe Spahiu-Konjusha, Miklós Szolnoky, Gabriella Szűcs, Natasa Toplak, Beáta Tóth, Galina Tsyvkina, Irina Tuzankina, Elena Vlasova, and Alla Volokha
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J Project ,immunodeficiencies ,Eastern and Central Europe, Asia ,ESID ,parameters ,Immunologic diseases. Allergy ,RC581-607 - Abstract
IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.
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- 2022
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43. Behavior Change Techniques in Digital Health Interventions for Midlife Women: Systematic Review
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Hana Sediva, Tina Cartwright, Claire Robertson, and Sanjoy K Deb
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Information technology ,T58.5-58.64 ,Public aspects of medicine ,RA1-1270 - Abstract
BackgroundDigital health interventions are efficacious in health-promoting behaviors (eg, healthy eating and regular physical activity) that mitigate health risks and menopausal symptoms in midlife. However, integrated evidence-based knowledge about the mechanisms of change in these interventions is unclear. ObjectiveThis systematic review aimed to evaluate studies on behavior change techniques (BCTs) and mechanisms of change in digital health interventions aimed at promoting health-enhancing behaviors in midlife women (aged 40-65 years). MethodsA systematic literature search of the electronic databases PubMed, Web of Science, PsycINFO, and Cochrane Central Register of Controlled Trials in the Cochrane Library was conducted. In total, 2 independent reviewers selected the studies for inclusion, extracted data, and completed BCT mapping of eligible studies. The mechanism of action and intervention functions of eligible studies were evaluated using the behavior change wheel framework. Reporting of psychological theory use within these interventions was explored using the Theory Coding Scheme. Mode of delivery, psychological theory, and BCTs were presented as descriptive statistics. ResultsIn total, 13 interventions (including 1315 women) reviewed used 13 (SD 4.30, range 6-21) BCTs per intervention on average. The “Shaping knowledge” and “Repetition and substitution” behavior change categories were used most frequently, with 92% (12/13) of the interventions implementing at least one of the BCTs from these 2 categories. Only 13.98% (169/1209) of the 93 available BCTs were used, with “Instructions on behaviour” most frequently used (12/13, 92%). The behavior change wheel mapping suggests that half of the intervention content aimed to increase “Capability” (49/98, 50% of the intervention strategies), “Motivation” (41/98, 42%), and “Opportunity” (8/98, 8%). “Behavioural Regulation” was the most frequently used mechanism of action (15/98, 15%), followed by increasing “Knowledge” (13/98, 13%) and “Cognitive and Interpersonal skills” (10/98, 10%). A total of 78% (7/9) of the intervention functions were used in the studies to change behavior, primarily through “Enablement” (60/169, 35.5%), whereas no study used “Restriction” or “Modelling” functions. Although 69% (9/13) of the interventions mentioned a psychological theory or model, most (10/13, 77%) stated or suggested rather than demonstrated the use of a theoretical base, and none reported explicit links between all BCTs within the intervention and the targeted theoretical constructs. Technological components were primarily based on web-based (9/13, 69%) modes of delivery, followed by phone or SMS text message (8/13, 62%) and wearables (7/13, 54%). ConclusionsThe findings of this review indicate an overall weak use of theory, low levels of treatment fidelity, insignificant outcomes, and insufficient description of several interventions to support the assessment of how specific BCTs were activated. Thus, the identified limitations in the current literature provide an opportunity to improve the design of lifestyle health-enhancing interventions for women in midlife. Trial RegistrationPROSPERO CRD42021259246; https://tinyurl.com/4ph74a9u
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- 2022
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44. Pulsed Field Ablation of Paroxysmal Atrial Fibrillation: 1-Year Outcomes of IMPULSE, PEFCAT, and PEFCAT II
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Reddy, Vivek Y., Dukkipati, Srinivas R., Neuzil, Petr, Anic, Ante, Petru, Jan, Funasako, Moritoshi, Cochet, Hubert, Minami, Kentaro, Breskovic, Toni, Sikiric, Ivan, Sediva, Lucie, Chovanec, Milan, Koruth, Jacob, and Jais, Pierre
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- 2021
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45. Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis
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Marketa Bloomfield, Irena Zentsova, Tomas Milota, Anna Sediva, and Zuzana Parackova
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candidiasis ,cmc ,monocytes ,dendritic cell ,STAT1 ,ruxolitinib ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Patients with STAT1 gain-of-function (GOF) mutations suffer from an inborn error of immunity hallmarked by chronic mucocutaneous candidiasis (CMC). The pathogenesis behind this complex and heterogeneous disease is still incompletely understood. Beyond the well-recognized Th17 failure, linked to the STAT1/STAT3 dysbalance-driven abrogation of antifungal defense, only little is known about the consequences of augmented STAT1 signaling in other cells, including, interestingly, the innate immune cells. STAT1-mediated signaling was previously shown to be increased in STAT1 GOF CD14+ monocytes. Therefore, we hypothesized that monocytes might represent important co-orchestrators of antifungal defense failure, as well as various immunodysregulatory phenomena seen in patients with STAT1 GOF CMC, including autoimmunity. In this article, we demonstrate that human STAT1 GOF monocytes are characterized by proinflammatory phenotypes and a strong inflammatory skew of their secretory cytokine profile. Moreover, they exhibit diminished CD16 expression, and reduction of classical (CD14++C16-) and expansion of intermediate (CD14++16+) subpopulations. Amongst the functional aberrations, a selectively enhanced responsiveness to TLR7/8 stimulation, but not to other TLR ligands, was noted, which might represent a contributing mechanism in the pathogenesis of STAT1 GOF-associated autoimmunity. Importantly, some of these features extend to STAT1 GOF monocyte-derived dendritic cells and to STAT1 GOF peripheral myeloid dendritic cells, suggesting that the alterations observed in monocytes are, in fact, intrinsic due to STAT1 mutation, and not mere bystanders of chronic inflammatory environment. Lastly, we observe that the proinflammatory bias of STAT1 GOF monocytes may be ameliorated with JAK inhibition. Taken together, we show that monocytes likely play an active role in both the microbial susceptibility and autoimmunity in STAT1 GOF CMC.
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- 2022
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46. Immunogenicity and safety of the booster BNT162b2 vaccine in patients with axial spondyloarthritis treated with biological disease-modifying drugs
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Jitka Smetanova, Tomas Milota, Michal Rataj, Jana Hurnakova, Hana Zelena, Anna Sediva, and Rudolf Horvath
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axial spondyloarthritis ,COVID-19 ,vaccination ,immunogenicity ,safety ,Immunologic diseases. Allergy ,RC581-607 - Abstract
BackgroundVaccination confers relatively short-term protection against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), indicating the need for booster doses. Immunocompromised individuals, including those with immune-mediated inflammatory diseases (IMIDs), may have pronounced immune response waning. Vaccine-boosted humoral and T-cell responses minimize poor coronavirus disease 19 (COVID-19) outcome without increasing adverse events (AE). There is limited evidence of third-dose vaccination in axial spondyloarthritis (AxSpA) patients. We investigated immune-response persistence after primary vaccination and immunogenicity and safety after the BNT162b2 booster vaccination.MethodsThis prospective observational study enrolled an AxSpA cohort treated with interleukin-17 (IL-17) and tumor necrosis factor-alpha (TNFα) inhibitors. Serum SARS-CoV-2-specific and virus-neutralizing antibodies for humoral response and flow cytometric detection of intracellular cytokines following SARS-CoV-2-specific peptide-based stimulation for T-cell immune responses were assessed, and safety was evaluated via a clinical questionnaire.ResultsFifteen male AxSpA patients treated with TNFα (73·3%) or IL-17 (26·7%) inhibitors were enrolled and had humoral response persistence at 6 months: 905·6 ( ± 186·1 SD) and 409·1 ( ± 335·7) U/mL. Specific antibody concentrations further increased after booster vaccination to 989·7 ( ± 12·62) and 1000 U/mL and T-cell responders from 53·3% to 80%, with no differences between AxSpA (including “vaccination only” and “hybrid immunity” subgroups) and healthy control (HC) cohorts. No severe AE occurred; the AE spectrum was comparable to that of the general population.ConclusionImmune-response persistence after primary vaccination and immunogenicity after booster vaccination were unaffected by anti-IL17 or anti-TNFα therapy with similar AE as in the general population.
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- 2022
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47. Increased histone citrullination in juvenile idiopathic arthritis
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Zuzana Parackova, Irena Zentsova, Hana Malcova, Dita Cebecauerova, Anna Sediva, and Rudolf Horvath
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juvenile idiopathic arthritis ,citrullination ,histone ,neutrophil ,NETosis ,peptidyl arginine deiminases (PAD) ,Medicine (General) ,R5-920 - Abstract
ObjectivePosttranslational modifications (PTMs) of proteins are crucial for regulating various biological processes. However, protein alteration via PTMs, and consequently, the creation of new epitopes, can induce abnormal autoimmune responses in predisposed individuals. Immunopathogenesis of several rheumatic diseases, including the most common childhood form, juvenile idiopathic arthritis (JIA), is associated with the generation of autoantibodies against such modified proteins. Dysregulated generation of neutrophil extracellular traps (NETs) can be a source of post-translationally altered proteins. Thus, we investigated the role of PTMs and the presence of NET-associated markers in JIA patients.MethodsWe recruited 30 pediatric patients with JIA (20 with active disease and 10 in remission) and 30 healthy donors. The serum concentrations of citrullinated histone H3 (citH3), peptidyl arginine deiminases (PADs), and NET-related products were detected using ELISA, and the number of citH3+ neutrophils was assessed using flow cytometry.ResultsThe serum levels of citH3 and PADs were higher in active as well as in remission JIA patients than in healthy donors. Similarly, the number of citH3+ neutrophils was higher in the peripheral blood of patients with JIA, implying an enhanced process of NETosis. This was effectively reflected by elevated serum levels of NET-associated products, such as neutrophil elastase, LL37, and cell-free DNA-histone complexes. Additionally, 16.7% of active JIA patients were seropositive for carbamylated autoantibodies, the levels of which declined sharply after initiation of anti-TNFα therapy.ConclusionCollectively, our data suggest that the accelerated process of NETosis and PTMs in JIA may result in the generation of anti-citrullinated/carbamylated autoantibodies against various epitopes later in life, which could be prevented by effectively regulating inflammation using immune therapy.
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- 2022
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48. Abstract 14123: AF Ablation Using a Novel “Single-Shot” Map-and-Ablate Spherical Array Pulsed Field Ablation Catheter: Impact of Application Repetition on PV Isolation Durability in the PULSE-EU Study
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Reddy, Vivek Y, Turagam, Mohit K, Petru, Jan, Koruth, jacob s, Funasako, Moritoshi, Hala, Pavel, Skoda, Jan, Chovanec, Milan, Sediva, Lucie, and Neuzil, Petr
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- 2022
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49. Causes of death after spinal cord injury in the Czech Republic
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Kriz, Jiri, Sediva, Kristyna, and Maly, Marek
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- 2021
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50. Retrieval of Long-Term Implanted Leadless Pacemakers: A Single-Center Experience
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Minami, Kentaro, Neužil, Petr, Petrů, Jan, Chovanec, Milan, Hubbard, Chris, Hála, Pavel, Janotka, Marek, Škoda, Jan, Šedivá, Lucie, and Reddy, Vivek Y.
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- 2020
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