Case Report: When cystic fibrosis, elexacaftor/tezacaftor/ivacaftor therapy, and alpha1 antitrypsin deficiency get together

Autor: Rachel Kinuani, Jessica Ezri, Yann Kernen, Isabelle Rochat, Sylvain Blanchon

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

In the last 10 years, the care of patients with cystic fibrosis (CF) has been revolutionized with the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs, with a major impact on symptoms and life expectancy, esp

Externí odkaz: https://doaj.org/article/3278978b4cc241f68a3865bbcff6e915

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Autor: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marlen, Zurek, Caterina, Strisciuglio, Mamoun, Elawad, Bernice, Lo, Carolina, Arancibia-Carcamo, Adam, Bailey, Ellie, Barnes, Elizabeth Louise, Bird-Lieberman, Oliver, Brain, Barbara, Braden, Jane, Collier, James, East, Lucy, Howarth, Satish, Keshav, Paul, Klenerman, Simon, Leedham, Rebecca, Palmer, Fiona, Powrie, Alison, Simmons, Matthew, Walker, Zoe, Tolkien, Stephen, Kaptoge, David, Allen, Susan, Mehenny, Jonathan, Mant, Emanuele, Di Angelantonio, Simon G, Thompson, Bahtiyar, Yilmaz, Pascal, Juillerat, Markus, Geuking, Reiner, Wiest, Andrew J, Macpherson, Francisco Damian, Bravo, Lukas, Brügger, Ove, Carstens, Ulrike Graf, Bigler, Benjamin, Heimgartner, Monica, Rusticeanu, Sybille, Schmid-Uebelhart, Bruno, Strebel, Aurora, Tatu, Radu, Tutuian, Ove, Øyås, Charlotte, Ramon, Jörg, Stelling, Yannick, Franc, Nicolas, Fournier, Valerie E H, Pittet, Bernard, Burnand, Mara, Egger, Delphine, Golay, Astrid, Marot, Leilla, Musso, Valérie, Pittet, Jean-Benoît, Rossel, Vivianne, Seematter, Joachim, Sommer, Rachel, Vulliamy, Pierre, Michetti, Michel H, Maillard, Céline, Keller, Andreas, Nydegger, Alain, Schoepfe, Eva, Archanioti, Jessica, Ezri, Montserrat, Fraga, Alain, Schoepfer, Christoph, Müller, Gerhard, Rogler, Luc, Biedermann, Mirjam, Blattmann, Sabine, Burk, Barbara, Dora, Michael, Fried, Benjamin, Misselwitz, Beat, Müllhaupt, Nicole, Obialo, Daniel, Pohl, Nadia, Raschle, Michael, Scharl, Stephan, Vavricka, Roland, Von Känel, Jonas, Zeitz, Karim, Abdelrahman, Gentiana, Ademi, Jan, Borovicka, Stephan, Brand, Remus, Frei, Johannes, Haarer, Christina, Knellwolf-Grieger, Claudia, Krieger-Grübel, Patrizia, Künzler, Christa, Meyenberger, Pamela, Meyer, Nina, Röhrich, Mikael, Sawatzki, Martin, Schelling, Gian-Marco, Semadeni, Michael, Sulz, Dorothee, Zimmermann, Patrick, Aepli, Dominique H, Criblez, Cyrill, Hess, Jean-Pierre, Richterich, Johannes, Spalinger, Dominic, Staudenmann, Andreas, Stulz, Stefanie, Wöhrle, Amman, Thomas, Claudia, Anderegg, Henrik, Köhler, Rachel, Kusche, Anca-Teodora, Antonino, Eviano, Arrigoni, José M, Bengoa, Sophie, Cunningham, Philippe, de Saussure, Laurent, Girard, Diana Bakker, de Jong, Polat, Bastürk, Simon, Brunner, Lukas, Degen, Petr, Hruz, Carolina, Khalid-de Bakker, Jan, Niess, Bruno, Balsiger, Janine, Haldemann, Gaby, Saner, Frank, Seibold, Peter, Bauerfeind, Andrea, Becocci, Dominique, Belli, Janek, Binek, Peter, Hengstler, Stephan, Boehm, Tujana, Boldanov, Patrick, Bühr, Rebekka, Koller, Vanessa, Rueger, Arne, Senning, Emanuel, Burri, Sophie, Buyse, Dahlia-Thao, Cao, Fabrizia, D'Angelo, Joakim, Delarive, Christopher, Doerig, Roxane, Hessler, Claudia, Preissler, Ronald, Rentsch, Branislav, Risti, Marc Alain, Ritz, Michael, Steuerwald, Jürg, Vögtlin, Markus, Sagmeister, Bernhard, Sauter, Susanne, Schibli, Christiane, Sokollik, Hugo, Schlauri, Jean-François, Schnegg, Mariam, Seirafi, Holger, Spangenberger, Philippe, Stadler, Peter, Staub, Volker, Stenz, Michela, Tempia-Caliera, Joël, Thorens, Kaspar, Truninger, Patrick, Urfer, Francesco, Viani, Dominique, Vouillamoz, Silvan, Zander, Tina, Wyli, L, Jostins, N A, Kennedy, T, Ahmad, C A, Lamb, C, Edwards, A, Hart, C, Hawkey, J C, Mansfield, C, Mowat, W G, Newman, A, Simmons, M, Tremelling, J C, Lee, N J, Prescott, C G, Mathew, C W, Lees, D P B, McGovern, S R, Targan, G, Botwin, E, Mengesha, P, Fleshner, C, Landers, D, Li, J D, Rioux, A, Bitton, J, Côté-Daigneault, M J, Daly, R, Xavier, K, Morris, G, Boucher, J H, Cho, C, Abraham, M, Merad, B, Sands, I, Peter, K, Hao, Y, Itan, R H, Duerr, L, Konnikova, M B, Schwartz, S, Proksell, E, Johnston, V, Miladinova, W, Chen, S R, Brant, L, Datta, M S, Silverberg, L P, Schumm, S, Birch, M, Giri, K, Gettler, Y, Sharma, C, Stevens, M, Lazarev, T, Haritunians

Publikováno v: Nature communications, Vol. 11, no. 1, p. 995 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K; Barakat, Farah; Auth, Marcus K H; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P; Satsangi, Jack; Parkes, Miles; ... (2020). Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications, 11(1), p. 995. 10.1038/s41467-019-14275-y
Nature communications, vol. 11, no. 1, pp. 995
Serra, E G, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, N M, Posovszky, C, Rodrigues, A, Russell, R K, Barakat, F, Auth, M K H, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, S P, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, J C, Gilmour, K C, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, T A, Fulga, T A, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, J C, Elkadri, A, Griffiths, A M, Snapper, S B, Shah, N, Muise, A M, Wilson, D C, Uhlig, H H & Anderson, C A 2020, ' Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease ', Nature Communications, vol. 11, no. 1, 995 . https://doi.org/10.1038/s41467-019-14275-y
Nature Communications, 11 (1)

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282851f8bc740bd242ba5ac671511a88
https://ora.ox.ac.uk/objects/uuid:e074342c-af9d-41fd-a898-9b6570bb5151

Identifying Patients at High Risk of Loss of Response to Infliximab Maintenance Therapy in Paediatric Crohn’s Disease

Autor: Claire Dupont-Lucas, Robert Sternszus, Jessica Ezri, Samantha Leibovitch, France Gervais, Devendra Amre, Colette Deslandres

Publikováno v: Journal of Crohn's and Colitis. 10:795-804

Background and aims: Loss of response to infliximab resulting in discontinuation of therapy is a frequent problem encountered in paediatric Crohn’s disease. Although identifying patients at risk of failure could have important implications for foll

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3366656b86b0b48785e77c3f4bcde2
https://doi.org/10.1093/ecco-jcc/jjw038

Systematic Evaluation of Diagnostic Delay in Pediatric Inflammatory Bowel Disease

Autor: Nicolas Fournier, Jessica Ezri, Pierre Deltenre, Stephan R. Vavricka, Gerhard Rogler, Alex Straumann, Andreas Nydegger, Alain M. Schoepfer, Christian Braegger, Pascal Frei, Christine N. Manser, Ekaterina Safroneeva

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 64:245-247

We evaluated the diagnostic delay (time from first symptoms to diagnosis) in 100 pediatric patients with Crohn disease (CD) and 75 patients with ulcerative colitis (UC). Median (interquartile range) diagnostic delay in patients with CD was 4 (2-8) (r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0b33c21499d387b19e9068e4893e67
https://doi.org/10.1097/mpg.0000000000001238

Uveitis manifestations in patients of the Swiss Inflammatory Bowel Disease Cohort Study

Autor: Luc Biedermann, Laura Renz, Nicolas Fournier, Jean-Benoît Rossel, Matthias Butter, Sena Bluemel, Stephan R. Vavricka, Gerhard Rogler, Michael Scharl, Claudia Anderegg, Peter Bauerfeind, Christoph Beglinger, Stefan Begré, Dominique Belli, José M. Bengoa, Beat Bigler, Janek Binek, Mirjam Blattmann, Stephan Boehm, Jan Borovicka, Christian P. Braegger, Nora Brunner, Patrick Bühr, Bernard Burnand, Emanuel Burri, Sophie Buyse, Matthias Cremer, Dominique H. Criblez, Philippe de Saussure, Lukas Degen, Joakim Delarive, Christopher Doerig, Barbara Dora, Gian Dorta, Mara Egger, Tobias Ehmann, Ali El-Wafa, Matthias Engelmann, Jessica Ezri, Christian Felley, Markus Fliegner, Montserrat Fraga, Pascal Frei, Remus Frei, Michael Fried, Florian Froehlich, Christian Funk, Raoul Ivano Furlano, Suzanne Gallot-Lavallée, Martin Geyer, Marc Girardin, Delphine Golay, Tanja Grandinetti, Beat Gysi, Horst Haack, Johannes Haarer, Beat Helbling, Peter Hengstler, Denise Herzog, Cyrill Hess, Klaas Heyland, Thomas Hinterleitner, Philippe Hiroz, Claudia Hirschi, Petr Hruz, Rika Iwata, Res Jost, Pascal Juillerat, Vera Kessler Brondolo, Christina Knellwolf, Christoph Knoblauch, Henrik Köhler, Rebekka Koller, Claudia Krieger-Grübel, Gerd Kullak-Ublick, Patrizia Künzler, Markus Landolt, Rupprecht Lange, Frank Serge Lehmann, Andrew Macpherson, Philippe Maerten, Michel H. Maillard, Christine Manser, Michael Manz, Urs Marbet, George Marx, Christoph Matter, Valérie McLin, Rémy Meier, Martina Mendanova, Christa Meyenberger, Pierre Michetti, Benjamin Misselwitz, Darius Moradpour, Bernhard Morell, Patrick Mosler, Christian Mottet, Christoph Müller, Pascal Müller, Beat Müllhaupt, Claudia Münger-Beyeler, Leilla Musso, Andreas Nagy, Michaela Neagu, Cristina Nichita, Jan Niess, Natacha Noël, Andreas Nydegger, Nicole Obialo, Carl Oneta, Cassandra Oropesa, Ueli Peter, Daniel Peternac, Laetitia Marie Petit, Franziska Piccoli-Gfeller, Julia Beatrice Pilz, Valérie Pittet, Nadia Raschle, Ronald Rentsch, Sophie Restellini, Jean-Pierre Richterich, Sylvia Rihs, Marc Alain Ritz, Jocelyn Roduit, Daniela Rogler, Markus Sagmeister, Gaby Saner, Bernhard Sauter, Mikael Sawatzki, Michela Schäppi, Martin Schelling, Susanne Schibli, Hugo Schlauri, Sybille Schmid Uebelhart, Jean-François Schnegg, Alain Schoepfer, Frank Seibold, Mariam Seirafi, Gian-Marco Semadeni, David Semela, Arne Senning, Marc Sidler, Christiane Sokollik, Johannes Spalinger, Holger Spangenberger, Philippe Stadler, Michael Steuerwald, Alex Straumann, Bigna Straumann-Funk, Michael Sulz, Joël Thorens, Sarah Tiedemann, Radu Tutuian, Stephan Vavricka, Francesco Viani, Jürg Vögtlin, Roland Von Känel, Alain Vonlaufen, Dominique Vouillamoz, Rachel Vulliamy, Jürg Wermuth, Helene Werner, Paul Wiesel, Reiner Wiest, Tina Wylie, Jonas Zeitz, Dorothee Zimmermann

Publikováno v: Therapeutic Advances in Gastroenterology, Vol 12 (2019)
Therapeutic advances in gastroenterology, vol. 12, pp. 1756284819865142
Therapeutic Advances in Gastroenterology

Background: The knowledge about risk factors for the onset of uveitis manifestations in patients with inflammatory bowel disease (IBD) is still limited. Here, we aimed to provide an overview of the clinical factors associated with the onset of uveiti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d70aef040dc5e67b941847bb18b4599
https://doi.org/10.1177/1756284819865142