24 results on '"Staudenmann, Dominic A"'
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2. Survey of dietary beliefs and habits of inflammatory bowel disease patients
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Verdina, Melody, Seibold, Frank, Grandmaison, Gaël, Michetti, Pierre, Barras-Moret, Anne-Catherine, Liu, Ken, Vaucher, Julien, and Staudenmann, Dominic
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- 2023
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3. Endoscopic Evaluation of Indeterminate Biliary Strictures: a Review
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Staudenmann, Dominic, Bonnichsen, Mark, Saxena, Payal, and Kaffes, Arthur John
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- 2021
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4. SARS-CoV-2 vaccination in inflammatory bowel disease patients is not associated with flares: a retrospective single-centre Swiss study.
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Rossier, Laura N., Décosterd, Natalie P., Matter, Christoph B., Staudenmann, Dominic A., Moser, André, Egger, Bernhard, and Seibold, Frank W.
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VACCINATION complications ,VACCINATION status ,INFLAMMATORY bowel diseases ,ELECTRONIC health records ,PATIENT safety - Abstract
Introduction: Vaccination hesitancy is an important barrier to vaccination among IBD patients. The development of adverse events is the main concern reported. The purpose of this monocentric study was to assess SARS-CoV-2 vaccination safety in IBD patients by evaluating the postvaccination flare risk and incidence of overall adverse events. Methods: Surveys were handed out on three consecutive months to each patient presenting at the Crohn-Colitis Centre, where they documented their vaccination status and any side effects experienced after vaccination. Dates of flares occurring in 2021 were recorded from their electronic medical records. Baseline and IBD characteristics and flare incidence were compared between the vaccinated and unvaccinated patients, and among the vaccinated population before and after their vaccination doses. The characteristics of patients who developed side effects and of those who did not were compared. Results: We enrolled 396 IBD patients, of whom 91% were vaccinated. The proportion of patients who experienced flares was statistically not different between the vaccinated and the unvaccinated population (1.8 vs 2.6 flares per 100 person-months (p=0.28)). Among vaccinated patients, there was no difference across the prevaccination, 1month post any vaccination, and more than 1month after any vaccination periods, and between the Spikevax and Cominarty subgroups. Overall, 46% of patients reported vaccination side effects, mostly mild flu-like symptoms. Conclusion: SARS-CoV-2 vaccination with mRNA vaccines seems safe, with mostly mild side effects. The IBD flare risk is not increased in the month following any vaccination. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Impact of Overweight and Obesity on Disease Outcome in the Pediatric Swiss Inflammatory Bowel Disease Cohort
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von Graffenried, Thea, Schoepfer, Alain M., Rossel, Jean-Benoit, Greuter, Thomas, Safroneeva, Ekaterina, Godat, Sébastien, Henchoz, Sarah, Vavricka, Stephan R., Sokollik, Christiane, Spalinger, Johannes, Braegger, Christian P., Nydegger, Andreas, Abdelrahman, Karim, Ademi, Gentiana, Aepli, Patrick, Thomas, Amman, Anderegg, Claudia, Antonino, Anca-Teodora, Archanioti, Eva, Arrigoni, Eviano, de Jong, Diana Bakker, Balsiger, Bruno, Bastürk, Polat, Bauerfeind, Peter, Becocci, Andrea, Belli, Dominique, Bengoa, José M., Biedermann, Luc, Binek, Janek, Blattmann, Mirjam, Boehm, Stephan, Boldanova, Tujana, Borovicka, Jan, Braegger, Christian P., Brand, Stephan, Brügger, Lukas, Brunner, Simon, Bühr, Patrick, Burnand, Bernard, Burk, Sabine, Burri, Emanuel, Buyse, Sophie, Cao, Dahlia-Thao, Carstens, Ove, Criblez, Dominique H., Cunningham, Sophie, D’Angelo, Fabrizia, de Saussure, Philippe, Degen, Lukas, Delarive, Joakim, Doerig, Christopher, Dora, Barbara, Drerup, Susan, Egger, Mara, El-Wafa, Ali, Engelmann, Matthias, Felley, Christian, Fliegner, Markus, Fournier, Nicolas, Fraga, Montserrat, Franc, Yannick, Frei, Pascal, Frei, Remus, Fried, Michael, Froehlich, Florian, Furlano, Raoul Ivano, Garzoni, Luca, Geyer, Martin, Girard, Laurent, Girardin, Marc, Golay, Delphine, Good, Ignaz, Bigler, Ulrike Graf, Gysi, Beat, Haarer, Johannes, Halama, Marcel, Haldemann, Janine, Heer, Pius, Heimgartner, Benjamin, Helbling, Beat, Hengstler, Peter, Herzog, Denise, Hess, Cyrill, Heyland, Klaas, Hinterleitner, Thomas, Hirschi, Claudia, Hruz, Petr, Juillerat, Pascal, Khalid-de Bakker, Carolina, Kayser, Stephan, Keller, Céline, Knellwolf, Christina, Knoblauch, Christoph, Köhler, Henrik, Koller, Rebekka, Krieger, Claudia, Künzler, Patrizia, Kusche, Rachel, Lehmann, Frank Serge, Macpherson, Andrew, Maillard, Michel H., Manz, Michael, Marot, Astrid, Meier, Rémy, Meyenberger, Christa, Meyer, Pamela, Michetti, Pierre, Misselwitz, Benjamin, Mosler, Patrick, Mottet, Christian, Müller, Christoph, Müllhaupt, Beat, Musso, Leilla, Neagu, Michaela, Nichita, Cristina, Niess, Jan, Nydegger, Andreas, Obialo, Nicole, Ollo, Diana, Oropesa, Cassandra, Peter, Ulrich, Peternac, Daniel, Petit, Laetitia Marie, Pittet, Valérie, Pohl, Daniel, Porzner, Marc, Preissler, Claudia, Raschle, Nadia, Rentsch, Ronald, Restellini, Alexandre, Restellini, Sophie, Richterich, Jean-Pierre, Ris, Frederic, Risti, Branislav, Ritz, Marc Alain, Rogler, Gerhard, Röhrich, Nina, Rossel, Jean-Benoît, Rueger, Vanessa, Rusticeanu, Monica, Sagmeister, Markus, Saner, Gaby, Sauter, Bernhard, Sawatzki, Mikael, Scharl, Michael, Schelling, Martin, Schibli, Susanne, Schlauri, Hugo, Schluckebier, Dominique, Schmid, Daniela, Schmid, Sybille, Schnegg, Jean-François, Schoepfer, Alain, Seematter, Vivianne, Seibold, Frank, Seirafi, Mariam, Semadeni, Gian-Marco, Senning, Arne, Sokollik, Christiane, Sommer, Joachim, Spalinger, Johannes, Spangenberger, Holger, Stadler, Philippe, Staub, Peter, Staudenmann, Dominic, Stenz, Volker, Steuerwald, Michael, Straumann, Alex, Stulz, Andreas, Sulz, Michael, Tatu, Aurora, Tempia-Caliera, Michela, Thorens, Joël, Truninger, Kaspar, Tutuian, Radu, Urfer, Patrick, Vavricka, Stephan, Viani, Francesco, Vögtlin, Jürg, Von Känel, Roland, Vouillamoz, Dominique, Vulliamy, Rachel, Wiesel, Paul, Wiest, Reiner, Wöhrle, Stefanie, Zamora, Samuel, Zander, Silvan, Zeitz, Jonas, and Zimmermann, Dorothee
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- 2022
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6. Transoral Outlet Reduction (TORe) for the Treatment of Weight Regain and Dumping Syndrome after Roux-en-Y Gastric Bypass
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Hakiza, Landry, primary, Sartoretto, Adrian, additional, Burgmann, Konstantin, additional, Kumbhari, Vivek, additional, Matter, Christoph, additional, Seibold, Frank, additional, and Staudenmann, Dominic, additional
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- 2023
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7. Outcomes of patients with hepaticojejunostomy anastomotic strictures undergoing endoscopic and percutaneous treatment
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Choi, Kevin Kyung Ho, additional, Bonnichsen, Mark, additional, Liu, Ken, additional, Massey, Saniya, additional, Staudenmann, Dominic, additional, Saxena, Payal, additional, and Kaffes, Arthur John, additional
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- 2022
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8. HIGH DIAGNOSTIC YIELD OF CAPSULE ENDOSCOPY FOR INVESTIGATION OF SMALL BOWEL BLEEDING FOR PATIENTS ON ANTITHROMBOTIC MEDICATIONS
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Knox, Charlotte, primary, Kaffes, Arthur J., additional, and Staudenmann, Dominic, additional
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- 2022
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9. Current endoscopic closure techniques for the management of gastrointestinal perforations
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Staudenmann, Dominic, primary, Choi, Kevin Kyung Ho, additional, Kaffes, Arthur John, additional, and Saxena, Payal, additional
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- 2022
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10. Lumen-apposing metal stents salvage that accidentally dislodged during a necrosectomy of a WON (with video)
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Saxena, Payal, primary, Staudenmann, Dominic, additional, Mudaliar, Sanjivan, additional, and Kaffes, ArthurJohn, additional
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- 2022
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11. Narrow band imaging versus white light for detecting sessile serrated lesion: A prospective randomized multicenter study
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Staudenmann, Dominic, primary, Liu, Ken, additional, Varma, Poornima, additional, Wong, May, additional, Rai, Sonam, additional, Tsoutsman, Tatiana, additional, Choi, Kyung Ho, additional, Saxena, Payal, additional, and Kaffes, Arthur John, additional
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- 2021
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12. Endoscopic bariatric therapies for obesity: a review
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Staudenmann, Dominic A, primary, Sui, Zhixian, additional, Saxena, Payal, additional, Kaffes, Arthur J, additional, Marinos, George, additional, Kumbhari, Vivek, additional, Aepli, Patrick, additional, and Sartoretto, Adrian, additional
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- 2021
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13. Safety and long-term efficacy of hybrid-argon plasma coagulation for the treatment of Barrett's esophagus: An Australian pilot study (with video)
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Staudenmann, Dominic Andre, primary, Skacel, Ellie Patricia, additional, Tsoutsman, Tatiana, additional, Kaffes, Arthur John, additional, and Saxena, Payal, additional
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- 2021
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14. Effects of anti-TNF therapy and immunomodulators on anxiety and depressive symptoms in patients with inflammatory bowel disease: a 5-year analysis
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Siebenhüner, Alexander R., primary, Rossel, Jean-Benoît, additional, Schreiner, Philipp, additional, Butter, Matthias, additional, Greuter, Thomas, additional, Krupka, Niklas, additional, Jordi, Sebastian B. U., additional, Biedermann, Luc, additional, Rogler, Gerhard, additional, Misselwitz, Benjamin, additional, von Känel, Roland, additional, Abdelrahman, Karim, additional, Ademi, Gentiana, additional, Aepli, Patrick, additional, Thomas, Amman, additional, Anderegg, Claudia, additional, Antonino, Anca-Teodora, additional, Archanioti, Eva, additional, Arrigoni, Eviano, additional, Aslan, Nurullah, additional, Bakker de Jong, Diana, additional, Balsiger, Bruno, additional, Barry, Mamadou-Pathé, additional, Bastürk, Polat, additional, Bauerfeind, Peter, additional, Becocci, Andrea, additional, Bengoa, José M., additional, Binek, Janek, additional, Blattmann, Mirjam, additional, Boehm, Stephan, additional, Boldanova, Tujana, additional, Borovicka, Jan, additional, Braegger, Christian P., additional, Brand, Stephan, additional, Bravo, Francisco, additional, Brügger, Lukas, additional, Brunner, Simon, additional, Bühr, Patrick, additional, Burk, Sabine, additional, Burri, Emanuel, additional, Buyse, Sophie, additional, Cao, Dahlia-Thao, additional, Carstens, Ove, additional, Criblez, Dominique H., additional, D’Angelo, Fabrizia, additional, Saussure, Philippe de, additional, Degen, Lukas, additional, Delarive, Joakim, additional, Doerig, Christopher, additional, Dora, Barbara, additional, Drerup, Susan, additional, Ducrey, Carole, additional, El-Wafa, Ali, additional, Engelmann, Matthias, additional, Erdmann-Voisin, Aude, additional, Felley, Christian, additional, Fliegner, Markus, additional, Fraga, Montserrat, additional, Franc, Yannick, additional, Frei, Pascal, additional, Frei, Remus, additional, Fried, Michael, additional, Froehlich, Florian, additional, Ivano Furlano, Raoul, additional, Garzoni, Luca, additional, Geyer, Martin, additional, Girardin, Marc, additional, Golay, Delphine, additional, Good, Ignaz, additional, Graf Bigler, Ulrike, additional, Godat, Sébastien, additional, Gysi, Beat, additional, Haarer, Johannes, additional, Halama, Marcel, additional, Haldemann, Janine, additional, Heer, Pius, additional, Heimgartner, Benjamin, additional, Helbling, Beat, additional, Hengstler, Peter, additional, Herzog, Denise, additional, Hess, Cyrill, additional, Hessler, Roxane, additional, Heyland, Klaas, additional, Hinterleitner, Thomas, additional, Hirschi, Claudia, additional, Hruz, Petr, additional, Juillerat, Pascal, additional, Kapoglou, Ioannis, additional, Kayser, Stephan, additional, Keller, Céline, additional, Khalid-de Bakker, Carolina, additional, Knellwolf, Christina, additional, Knoblauch, Christoph, additional, Köhler, Henrik, additional, Koller, Rebekka, additional, Krieger, Claudia, additional, Künzler, Patrizia, additional, Kusche, Rachel, additional, Serge Lehmann, Frank, additional, Macpherson, Andrew, additional, Maillard, Michel H., additional, Manz, Michael, additional, Martinho, Maude, additional, Meier, Rémy, additional, Meyenberger, Christa, additional, Meyer, Pamela, additional, Michetti, Pierre, additional, Morell, Bernhard, additional, Mosler, Patrick, additional, Moschouri, Eleni, additional, Mottet, Christian, additional, Müller, Christoph, additional, Müllhaupt, Beat, additional, Musso, Leilla, additional, Neagu, Michaela, additional, Nichita, Cristina, additional, Niess, Jan, additional, Nydegger, Andreas, additional, Obialo, Nicole, additional, Oropesa, Cassandra, additional, Peter, Ulrich, additional, Peternac, Daniel, additional, Marie Petit, Laetitia, additional, Pittet, Valérie, additional, Pohl, Daniel, additional, Porzner, Marc, additional, Preissler, Claudia, additional, Raschle, Nadia, additional, Rentsch, Ronald, additional, Restellini, Sophie, additional, Richterich, Jean-Pierre, additional, Riedmüller, Sandra, additional, Risti, Branislav, additional, Alain Ritz, Marc, additional, Röhrich, Nina, additional, Roth, René, additional, Rueger, Vanessa, additional, Sagmeister, Markus, additional, Saner, Gaby, additional, Sarraj, Riad, additional, Sauter, Bernhard, additional, Sawatzki, Mikael, additional, Scharl, Michael, additional, Scharl, Sylvie, additional, Schelling, Martin, additional, Schibli, Susanne, additional, Schlauri, Hugo, additional, Schluckebier, Dominique, additional, Schmid, Daniela, additional, Schmid, Sybille, additional, Schnegg, Jean-François, additional, Schoepfer, Alain, additional, Seibold, Frank, additional, Seirafi, Mariam, additional, Semadeni, Gian-Marco, additional, Senning, Arne, additional, Sokollik, Christiane, additional, Sommer, Joachim, additional, Spalinger, Johannes, additional, Spangenberger, Holger, additional, Stadler, Philippe, additional, Staub, Peter, additional, Staudenmann, Dominic, additional, Stenz, Volker, additional, Steuerwald, Michael, additional, Straumann, Alex, additional, Stulz, Andreas, additional, Sulz, Michael, additional, Tempia-Caliera, Michela, additional, Thorens, Joël, additional, Truninger, Kaspar, additional, Tutuian, Radu, additional, Urfer, Patrick, additional, Vavricka, Stephan, additional, Viani, Francesco, additional, Vinzens, Fabrizion, additional, Vögtlin, Jürg, additional, Von Känel, Roland, additional, Vouillamoz, Dominique, additional, Vulliamy, Rachel, additional, Vullièmoz, Marianne, additional, Wiesel, Paul, additional, Wiest, Reiner, additional, Wöhrle, Stefanie, additional, Yilmaz, Bahtiyar, additional, Zamora, Samuel, additional, Zander, Silvan, additional, Zeitz, Jonas, additional, and Zimmermann, Dorothee, additional
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- 2021
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15. Plastic bezoar causing acute pancreatitis in an adolescent: A case report
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Staudenmann, Dominic, primary, Kaffes, Arthur J, additional, and Saxena, Payal, additional
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- 2020
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16. Endoscopic full-thickness suturing plus argon plasma mucosal coagulation versus argon plasma mucosal coagulation alone for weight regain after gastric bypass: a systematic review and meta-analysis
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Jaruvongvanich, Veeravich, primary, Vantanasiri, Kornpong, additional, Laoveeravat, Passisd, additional, Matar, Reem H., additional, Vargas, Eric J., additional, Maselli, Daniel B., additional, Alkhatry, Maryam, additional, Fayad, Lea, additional, Kumbhari, Vivek, additional, Fittipaldi-Fernandez, Ricardo Jose, additional, Hollenbach, Marcus, additional, Watson, Rabindra R., additional, Gustavo de Quadros, Luiz, additional, Galvao Neto, Manoel, additional, Aepli, Patrick, additional, Staudenmann, Dominic, additional, Brunaldi, Vitor Ottoboni, additional, Storm, Andrew C., additional, Martin, John A., additional, Gomez, Victoria, additional, and Abu Dayyeh, Barham K., additional
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- 2020
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17. Endoscopic Ultrasound-Guided Vascular Procedures: A Review
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Staudenmann, Dominic A., primary, Kaffes, Arthur J., additional, and Saxena, Payal, additional
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- 2020
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18. Emerging role of endoscopic ultrasound-guided liver biopsy
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Chetwood, John David, primary, Mudaliar, Sanjivan, additional, Staudenmann, Dominic, additional, Shin, Joo-Shik, additional, Liu, Ken, additional, Majumdar, Avik, additional, Kaffes, Arthur, additional, Strasser, Simone, additional, McCaughan, Geoffrey W, additional, and Saxena, Payal, additional
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- 2020
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19. Sport et troubles gastro-intestinaux
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Staudenmann, Dominic, primary, Gremion, Gérald, additional, and Criblez, Dominique, additional
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- 2018
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20. Sport und gastrointestinale Beschwerden
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Staudenmann, Dominic, primary, Gremion, Gérald, additional, and Criblez, Dominique, additional
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- 2018
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21. Kopfschmerzen vom Surfen
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Staudenmann, Dominic, primary and Rossi, Marco, additional
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- 2013
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22. Emerging role of endoscopic ultrasound-guided liver biopsy.
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Chetwood, John David, Mudaliar, Sanjivan, Staudenmann, Dominic, Joo-Shik Shin, Ken Liu, Majumdar, Avik, Kaffes, Arthur, Strasser, Simone, McCaughan, Geoffrey W., and Saxena, Payal
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LIVER biopsy ,COMPUTED tomography - Published
- 2021
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23. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
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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., Zurek, Marlen, Strisciuglio, Caterina, Elawad, Mamoun, Lo, Bernice, Arancibia-Carcamo, Carolina, Bailey, Adam, Barnes, Ellie, Bird-Lieberman, Elizabeth Louise, Brain, Oliver, Braden, Barbara, Collier, Jane, East, James, Howarth, Lucy, Keshav, Satish, Klenerman, Paul, Leedham, Simon, Palmer, Rebecca, Powrie, Fiona, Simmons, Alison, Walker, Matthew, Tolkien, Zoe, Kaptoge, Stephen, Allen, David, Mehenny, Susan, Mant, Jonathan, Di Angelantonio, Emanuele, Thompson, Simon G., Yilmaz, Bahtiyar, Juillerat, Pascal, Geuking, Markus, Wiest, Reiner, Macpherson, Andrew J., Bravo, Francisco Damian, Brügger, Lukas, Carstens, Ove, Bigler, Ulrike Graf, Heimgartner, Benjamin, Rusticeanu, Monica, Schmid (-Uebelhart), Sybille, Strebel, Bruno, Tatu, Aurora, Tutuian, Radu, Øyås, Ove, Ramon, Charlotte, Stelling, Jörg, Franc, Yannick, Fournier, Nicolas, Pittet, Valerie E. H., Burnand, Bernard, Egger, Mara, Golay, Delphine, Marot, Astrid, Musso, Leilla, Pittet, Valérie, Rossel, Jean-Benoît, Seematter, Vivianne, Sommer, Joachim, Vulliamy, Rachel, Michetti, Pierre, Maillard, Michel H., Keller, Céline, Nydegger, Andreas, Schoepfe, Alain, Archanioti, Eva, Ezri, Jessica, Fraga, Montserrat, Schoepfer, Alain, Müller, Christoph, Rogler, Gerhard, Biedermann, Luc, Blattmann, Mirjam, Burk, Sabine, Dora, Barbara, Fried, Michael, Misselwitz, Benjamin, Müllhaupt, Beat, Obialo, Nicole, Pohl, Daniel, Raschle, Nadia, Scharl, Michael, Vavricka, Stephan, Von Känel, Roland, Zeitz, Jonas, Abdelrahman, Karim, Ademi, Gentiana, Borovicka, Jan, Brand, Stephan, Frei, Remus, Haarer, Johannes, Knellwolf (-Grieger), Christina, Krieger(-Grübel), Claudia, Künzler, Patrizia, Meyenberger, Christa, Meyer, Pamela, Röhrich, Nina, Sawatzki, Mikael, Schelling, Martin, Semadeni, Gian-Marco, Sulz, Michael, Zimmermann, Dorothee, Aepli, Patrick, Criblez, Dominique H., Hess, Cyrill, Richterich, Jean-Pierre, Spalinger, Johannes, Staudenmann, Dominic, Stulz, Andreas, Wöhrle, Stefanie, Thomas, Amman, Anderegg, Claudia, Köhler, Henrik, Kusche, Rachel, Antonino, Anca-Teodora, Arrigoni, Eviano, Bengoa, José M., Cunningham, Sophie, De Saussure, Philippe, Girard, Laurent, De Jong, Diana Bakker, Bastürk, Polat, Brunner, Simon, Degen, Lukas, Hruz, Petr, Bakker, Carolina Khalid-De, Niess, Jan, Balsiger, Bruno, Haldemann, Janine, Saner, Gaby, Seibold, Frank, Bauerfeind, Peter, Becocci, Andrea, Belli, Dominique, Binek, Janek, Hengstler, Peter, Boehm, Stephan, Boldanov, Tujana, Bühr, Patrick, Koller, Rebekka, Rueger, Vanessa, Senning, Arne, Burri, Emanuel, Buyse, Sophie, Cao, Dahlia-Thao, D’Angelo, Fabrizia, Delarive, Joakim, Doerig, Christopher, Hessler, Roxane, Preissler, Claudia, Rentsch, Ronald, Risti, Branislav, Ritz, Marc Alain, Steuerwald, Michael, Vögtlin, Jürg, Sagmeister, Markus, Sauter, Bernhard, Schibli, Susanne, Sokollik, Christiane, Schlauri, Hugo, Schnegg, Jean-François, Seirafi, Mariam, Spangenberger, Holger, Stadler, Philippe, Staub, Peter, Stenz, Volker, Tempia-Caliera, Michela, Thorens, Joël, Truninger, Kaspar, Urfer, Patrick, Viani, Francesco, Vouillamoz, Dominique, Zander, Silvan, Wyli, Tina, Jostins, L., Kennedy, N. A., Ahmad, T., Lamb, C. A., Edwards, C., Hart, A., Hawkey, C., Mansfield, J. C., Mowat, C., Newman, W. G., Simmons, A., Tremelling, M., Lee, J. C., Prescott, N. J., Mathew, C. G., Lees, C. W., McGovern, D. P. B., Targan, S. R., Botwin, G., Mengesha, E., Fleshner, P., Landers, C., Li, D., Rioux, J. D., Bitton, A., Côté-Daigneault, J., Daly, M. J., Xavier, R., Morris, K., Boucher, G., Cho, J. H., Abraham, C., Merad, M., Sands, B., Peter, I., Hao, K., Itan, Y., Duerr, R. H., Konnikova, L., Schwartz, M. B., Proksell, S., Johnston, E., Miladinova, V., Chen, W., Brant, S. R., Datta, L., Silverberg, M. S., Schumm, L. P., Birch, S., Giri, M., Gettler, K., Sharma, Y., Stevens, C., Lazarev, M., and Haritunians, T.
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49/31 ,45 ,article ,45/22 ,631/208/1516 ,692/699/249/1570 ,45/23 ,631/250/249/2510/257 ,631/208/248 ,13 ,digestive system diseases ,3. Good health ,49 - Abstract
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 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis.
24. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
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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, Fachal, Laura [0000-0002-7256-9752], Croft, Nicholas M [0000-0002-1519-6435], Posovszky, Carsten [0000-0002-9487-8812], Russell, Richard K [0000-0001-7398-4926], Zilbauer, Matthias [0000-0002-7272-0547], Travis, Simon P [0000-0002-2690-4361], Matte, Julie C [0000-0001-5642-648X], Wedrychowicz, Andrzej [0000-0003-1448-167X], Fulga, Tudor A [0000-0002-1056-0082], Karaminejadranjbar, Mohammad [0000-0002-7770-2065], Ahmed, Ahmed [0000-0001-6509-2581], Muise, Aleixo M [0000-0001-9624-3346], Wilson, David C [0000-0003-0879-1129], Apollo - University of Cambridge Repository, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de gastro-entérologie, Croft, Nicholas M. [0000-0002-1519-6435], Russell, Richard K. [0000-0001-7398-4926], Travis, Simon P. [0000-0002-2690-4361], Matte, Julie C. [0000-0001-5642-648X], Fulga, Tudor A. [0000-0002-1056-0082], Muise, Aleixo M. [0000-0001-9624-3346], Wilson, David C. [0000-0003-0879-1129], Eva Gonçalves, Serra, Tobias, Schwerd, Loukas, Moutsiana, Athena, Cavounidi, Laura, Fachal, Sumeet, Pandey, Jochen, Kammermeier, Nicholas M, Croft, Carsten, Posovszky, Astor, Rodrigue, Richard K, Russell, Farah, Barakat, Marcus K H, Auth, Robert, Heuschkel, Matthias, Zilbauer, Krzysztof, Fyderek, Christian, Braegger, Simon P, Travi, Jack, Satsangi, Miles, Parke, Nikhil, Thapar, Helen, Ferry, Julie C, Matte, Kimberly C, Gilmour, Andrzej, Wedrychowicz, Peter, Sullivan, Carmel, Moore, Jennifer, Sambrook, Willem, Ouwehand, David, Robert, John, Danesh, Toni A, Baeumler, Tudor A, Fulga, Mohammad, Karaminejadranjbar, Ahmed, Ahmed, Rachel, Wilson, Jeffrey C, Barrett, Abdul, Elkadri, Anne M, Griffith, Scott B, Snapper, Neil, Shah, Aleixo M, Muise, David C, Wilson, Holm H, Uhlig, Carl A, Anderson, Zurek, Marlen, Strisciuglio, Caterina, Elawad, Mamoun, Lo, Bernice, Arancibia-Carcamo, Carolina, Bailey, Adam, Barnes, Ellie, Bird-Lieberman, Elizabeth Louise, Brain, Oliver, Braden, Barbara, Collier, Jane, East, Jame, Howarth, Lucy, Keshav, Satish, Klenerman, Paul, Leedham, Simon, Palmer, Rebecca, Powrie, Fiona, Simmons, Alison, Walker, Matthew, Tolkien, Zoe, Kaptoge, Stephen, Allen, David, Mehenny, Susan, Mant, Jonathan, Di Angelantonio, Emanuele, Thompson, Simon G, Yilmaz, Bahtiyar, Juillerat, Pascal, Geuking, Marku, Wiest, Reiner, Macpherson, Andrew J, Bravo, Francisco Damian, Brügger, Luka, Carstens, Ove, Bigler, Ulrike Graf, Heimgartner, Benjamin, Rusticeanu, Monica, Schmid-Uebelhart, Sybille, Strebel, Bruno, Tatu, Aurora, Tutuian, Radu, Øyås, Ove, Ramon, Charlotte, Stelling, Jörg, Franc, Yannick, Fournier, Nicola, Pittet, Valerie E H, Burnand, Bernard, Egger, Mara, Golay, Delphine, Marot, Astrid, Musso, Leilla, Pittet, Valérie, Rossel, Jean-Benoît, Seematter, Vivianne, Sommer, Joachim, Vulliamy, Rachel, Michetti, Pierre, Maillard, Michel H, Keller, Céline, Nydegger, Andrea, Schoepfe, Alain, Archanioti, Eva, Ezri, Jessica, Fraga, Montserrat, Schoepfer, Alain, Müller, Christoph, Rogler, Gerhard, Biedermann, Luc, Blattmann, Mirjam, Burk, Sabine, Dora, Barbara, Fried, Michael, Misselwitz, Benjamin, Müllhaupt, Beat, Obialo, Nicole, Pohl, Daniel, Raschle, Nadia, Scharl, Michael, Vavricka, Stephan, Von Känel, Roland, Zeitz, Jona, Abdelrahman, Karim, Ademi, Gentiana, Borovicka, Jan, Brand, Stephan, Frei, Remu, Haarer, Johanne, Knellwolf-Grieger, Christina, Krieger-Grübel, Claudia, Künzler, Patrizia, Meyenberger, Christa, Meyer, Pamela, Röhrich, Nina, Sawatzki, Mikael, Schelling, Martin, Semadeni, Gian-Marco, Sulz, Michael, Zimmermann, Dorothee, Aepli, Patrick, Criblez, Dominique H, Hess, Cyrill, Richterich, Jean-Pierre, Spalinger, Johanne, Staudenmann, Dominic, Stulz, Andrea, Wöhrle, Stefanie, Thomas, Amman, Anderegg, Claudia, Köhler, Henrik, Kusche, Rachel, Antonino, Anca-Teodora, Arrigoni, Eviano, Bengoa, José M, Cunningham, Sophie, de Saussure, Philippe, Girard, Laurent, de Jong, Diana Bakker, Bastürk, Polat, Brunner, Simon, Degen, Luka, Hruz, Petr, Khalid-de Bakker, Carolina, Niess, Jan, Balsiger, Bruno, Haldemann, Janine, Saner, Gaby, Seibold, Frank, Bauerfeind, Peter, Becocci, Andrea, Belli, Dominique, Binek, Janek, Hengstler, Peter, Boehm, Stephan, Boldanov, Tujana, Bühr, Patrick, Koller, Rebekka, Rueger, Vanessa, Senning, Arne, Burri, Emanuel, Buyse, Sophie, Cao, Dahlia-Thao, D'Angelo, Fabrizia, Delarive, Joakim, Doerig, Christopher, Hessler, Roxane, Preissler, Claudia, Rentsch, Ronald, Risti, Branislav, Ritz, Marc Alain, Steuerwald, Michael, Vögtlin, Jürg, Sagmeister, Marku, Sauter, Bernhard, Schibli, Susanne, Sokollik, Christiane, Schlauri, Hugo, Schnegg, Jean-Françoi, Seirafi, Mariam, Spangenberger, Holger, Stadler, Philippe, Staub, Peter, Stenz, Volker, Tempia-Caliera, Michela, Thorens, Joël, Truninger, Kaspar, Urfer, Patrick, Viani, Francesco, Vouillamoz, Dominique, Zander, Silvan, Wyli, Tina, Jostins, L, Kennedy, N A, Ahmad, T, Lamb, C A, Edwards, C, Hart, A, Hawkey, C, Mansfield, J C, Mowat, C, Newman, W G, Simmons, A, Tremelling, M, Lee, J C, Prescott, N J, Mathew, C G, Lees, C W, Mcgovern, D P B, Targan, S R, Botwin, G, Mengesha, E, Fleshner, P, Landers, C, Li, D, Rioux, J D, Bitton, A, Côté-Daigneault, J, Daly, M J, Xavier, R, Morris, K, Boucher, G, Cho, J H, Abraham, C, Merad, M, Sands, B, Peter, I, Hao, K, Itan, Y, Duerr, R H, Konnikova, L, Schwartz, M B, Proksell, S, Johnston, E, Miladinova, V, Chen, W, Brant, S R, Datta, L, Silverberg, M S, Schumm, L P, Birch, S, Giri, M, Gettler, K, Sharma, Y, Stevens, C, Lazarev, M, Haritunians, T, Carrami, Eli M [0000-0002-7770-2065], COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Zurek, M., Strisciuglio, C., Elawad, M., Lo, B., Arancibia-Carcamo, C., Bailey, A., Barnes, E., Bird-Lieberman, E.L., Brain, O., Braden, B., Collier, J., East, J., Howarth, L., Keshav, S., Klenerman, P., Leedham, S., Palmer, R., Powrie, F., Simmons, A., Walker, M., Tolkien, Z., Kaptoge, S., Allen, D., Mehenny, S., Mant, J., Di Angelantonio, E., Thompson, S.G., Yilmaz, B., Juillerat, P., Geuking, M., Wiest, R., Macpherson, A.J., Bravo, F.D., Brügger, L., Carstens, O., Bigler, U.G., Heimgartner, B., Rusticeanu, M., Schmid-Uebelhart, S., Strebel, B., Tatu, A., Tutuian, R., Øyås, O., Ramon, C., Stelling, J., Franc, Y., Fournier, N., Pittet, VEH, Burnand, B., Egger, M., Golay, D., Marot, A., Musso, L., Pittet, V., Rossel, J.B., Seematter, V., Sommer, J., Vulliamy, R., Michetti, P., Maillard, M.H., Keller, C., Nydegger, A., Schoepfe, A., Archanioti, E., Ezri, J., Fraga, M., Schoepfer, A., Müller, C., Rogler, G., Biedermann, L., Blattmann, M., Burk, S., Dora, B., Fried, M., Misselwitz, B., Müllhaupt, B., Obialo, N., Pohl, D., Raschle, N., Scharl, M., Vavricka, S., Von Känel, R., Zeitz, J., Abdelrahman, K., Ademi, G., Borovicka, J., Brand, S., Frei, R., Haarer, J., Knellwolf-Grieger, C., Krieger-Grübel, C., Künzler, P., Meyenberger, C., Meyer, P., Röhrich, N., Sawatzki, M., Schelling, M., Semadeni, G.M., Sulz, M., Zimmermann, D., Aepli, P., Criblez, D.H., Hess, C., Richterich, J.P., Spalinger, J., Staudenmann, D., Stulz, A., Wöhrle, S., Thomas, A., Anderegg, C., Köhler, H., Kusche, R., Antonino, A.T., Arrigoni, E., Bengoa, J.M., Cunningham, S., de Saussure, P., Girard, L., de Jong, D.B., Bastürk, P., Brunner, S., Degen, L., Hruz, P., Bakker, C.K., Niess, J., Balsiger, B., Haldemann, J., Saner, G., Seibold, F., Bauerfeind, P., Becocci, A., Belli, D., Binek, J., Hengstler, P., Boehm, S., Boldanov, T., Bühr, P., Koller, R., Rueger, V., Senning, A., Burri, E., Buyse, S., Cao, D.T., D'Angelo, F., Delarive, J., Doerig, C., Hessler, R., Preissler, C., Rentsch, R., Risti, B., Ritz, M.A., Steuerwald, M., Vögtlin, J., Sagmeister, M., Sauter, B., Schibli, S., Sokollik, C., Schlauri, H., Schnegg, J.F., Seirafi, M., Spangenberger, H., Stadler, P., Staub, P., Stenz, V., Tempia-Caliera, M., Thorens, J., Truninger, K., Urfer, P., Viani, F., Vouillamoz, D., Zander, S., Wyli, T., Jostins, L., Kennedy, N.A., Ahmad, T., Lamb, C.A., Edwards, C., Hart, A., Hawkey, C., Mansfield, J.C., Mowat, C., Newman, W.G., Tremelling, M., Lee, J.C., Prescott, N.J., Mathew, C.G., Lees, C.W., McGovern, DPB, Targan, S.R., Botwin, G., Mengesha, E., Fleshner, P., Landers, C., Li, D., Rioux, J.D., Bitton, A., Côté-Daigneault, J., Daly, M.J., Xavier, R., Morris, K., Boucher, G., Cho, J.H., Abraham, C., Merad, M., Sands, B., Peter, I., Hao, K., Itan, Y., Duerr, R.H., Konnikova, L., Schwartz, M.B., Proksell, S., Johnston, E., Miladinova, V., Chen, W., Brant, S.R., Datta, L., Silverberg, M.S., Schumm, L.P., Birch, S., Giri, M., Gettler, K., Sharma, Y., Stevens, C., Lazarev, M., and Haritunians, T.
- Subjects
0301 basic medicine ,Male ,Multifactorial Inheritance ,General Physics and Astronomy ,631/208/1516 ,13 ,Inflammatory bowel disease ,Whole Exome Sequencing ,Adult ,Age of Onset ,Case-Control Studies ,Child ,Child, Preschool ,Cohort Studies ,Female ,Genes, Recessive ,Genetic Predisposition to Disease ,Genetic Variation ,Humans ,Infant ,Infant, Newborn ,Inflammatory Bowel Diseases/etiology ,Inflammatory Bowel Diseases/genetics ,Loss of Function Mutation ,Mosaicism ,Mutation ,NADPH Oxidase 2/genetics ,Pedigree ,Primary Immunodeficiency Diseases/complications ,Primary Immunodeficiency Diseases/genetics ,Risk Factors ,0302 clinical medicine ,Primary Immunodeficiency Disease ,Medicine ,lcsh:Science ,Exome sequencing ,49/31 ,education.field_of_study ,Multidisciplinary ,Medical genetics ,article ,692/699/249/1570 ,631/250/249/2510/257 ,631/208/248 ,3. Good health ,NADPH Oxidase 2 ,030211 gastroenterology & hepatology ,Case-Control Studie ,Human ,medicine.medical_specialty ,Science ,Primary Immunodeficiency Diseases ,Population ,45/22 ,45/23 ,digestive system ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Immunological deficiency syndromes ,Exome Sequencing ,Immunogenetics ,Allele ,education ,45 ,business.industry ,Risk Factor ,Inflammatory Bowel Disease ,Case-control study ,General Chemistry ,medicine.disease ,Inflammatory Bowel Diseases ,digestive system diseases ,49 ,030104 developmental biology ,Immunology ,Primary immunodeficiency ,lcsh:Q ,Age of onset ,Cohort Studie ,business - Abstract
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 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P, Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.
- Published
- 2020
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