363 results on '"Seidel, Markus G."'
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2. Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
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Patel, Priya K., Chinga, Michell Lozano, Yilmaz, Melis, Joychan, Sonia, Ujhazi, Boglarka, Ellison, Maryssa, Gordon, Sumai, Nieves, Daime, Csomos, Krisztian, Eslin, Don, Afify, Zeinab A., Meznarich, Jessica, Bohnsack, John, Walkovich, Kelly, Seidel, Markus G., Sharapova, Svetlana, Boyarchyk, Oksana, Latysheva, Elena, Tuzankina, Irina, Shaker, Ahmad B., Ayala, Irmel, Sriaroon, Panida, Westermann-Clark, Emma, and Walter, Jolan E.
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- 2024
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3. Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy
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Seidel, Markus G. and Hauck, Fabian
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- 2024
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4. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
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Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan
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- 2024
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5. 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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6. The Human Phenotype Ontology in 2021
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Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, and Robinson, Peter N
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Biological Sciences ,Bioinformatics and Computational Biology ,Neurosciences ,Neurodegenerative ,Networking and Information Technology R&D (NITRD) ,Animals ,Biological Ontologies ,Computational Biology ,Databases ,Factual ,Disease ,Disease Models ,Animal ,Genome ,Genotype ,Humans ,Infant ,Newborn ,International Cooperation ,Internet ,Neonatal Screening ,Pharmacogenetics ,Phenotype ,Software ,Terminology as Topic ,Environmental Sciences ,Information and Computing Sciences ,Developmental Biology ,Biological sciences ,Chemical sciences ,Environmental sciences - Abstract
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
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- 2021
7. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
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Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, and Torgerson, Troy R
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Animals ,Humans ,Treatment Outcome ,Hematopoietic Stem Cell Transplantation ,Adolescent ,Adult ,Middle Aged ,Child ,Child ,Preschool ,Infant ,T-Lymphocytes ,Regulatory ,Young Adult ,Surveys and Questionnaires ,Primary Immunodeficiency Diseases ,autoimmunity ,genetics ,hematopoietic cell transplant ,immune dysregulation ,primary immune deficiencies ,Clinical Research ,Rare Diseases ,Transplantation ,5.2 Cellular and gene therapies ,Development of treatments and therapeutic interventions ,Inflammatory and immune system ,Immunology ,Medical Microbiology - Abstract
Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.
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- 2020
8. The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
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Seidel, Markus G., Tesch, Victoria K., Yang, Linlin, Hauck, Fabian, Horn, Anna Lena, Smolle, Maria Anna, Quehenberger, Franz, and Benesch, Martin
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- 2022
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9. Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
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Penkert, Judith, Strüwe, Farina J., Dutzmann, Christina M., Doergeloh, Beate B., Montellier, Emilie, Freycon, Claire, Keymling, Myriam, Schlemmer, Heinz-Peter, Sänger, Birte, Hoffmann, Beatrice, Gerasimov, Tanja, Blattmann, Claudia, Fetscher, Sebastian, Frühwald, Michael, Hettmer, Simone, Kordes, Uwe, Ridola, Vita, Kroiss Benninger, Sabine, Mastronuzzi, Angela, Schott, Sarah, Nees, Juliane, Prokop, Aram, Redlich, Antje, Seidel, Markus G., Zimmermann, Stefanie, Pajtler, Kristian W., Pfister, Stefan M., Hainaut, Pierre, and Kratz, Christian P.
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- 2022
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10. Complications of Immunosuppression in Pediatric Surgery
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Seidel, Markus G. and Puri, Prem, editor
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- 2021
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11. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Zielen, Stefan, Duecker, Ruth Pia, Woelke, Sandra, Donath, Helena, Bakhtiar, Sharhzad, Buecker, Aileen, Kreyenberg, Hermann, Huenecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, van der Flier, Michiel, van Aerde, Koen, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Juergen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus G., Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, von Bernuth, Horst, Krueger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Granado, Luis Ignacio Gonzalez, Prader, Seraina, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schuetz, Catharina, Kindle, Gerhard, and Schubert, Ralf
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- 2021
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12. Rethinking PIDs: Why the distinction between primary and secondary immune disorders is more frequently relevant than that between inborn and acquired errors of immunity
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Seidel, Markus G., primary
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- 2024
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13. 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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14. Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP
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Schifferli, Alexandra, Heiri, Andrea, Imbach, Paul, Holzhauer, Susanne, Seidel, Markus G., Nugent, Diane, Michel, Marc, and Kühne, Thomas
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- 2021
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15. Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.
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Karbiener, Michael, Kindle, Gerhard, Meyts, Isabelle, Seppänen, Mikko R. J., Candotti, Fabio, Kamieniak, Marta, Ilk, Reinhard, Kreil, Thomas R., and Seidel, Markus G.
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SARS-CoV-2 ,PRIMARY immunodeficiency diseases ,COVID-19 ,AGAMMAGLOBULINEMIA ,SARS-CoV-2 Omicron variant - Abstract
Immunocompromised individuals are at significantly elevated risk for severe courses of coronavirus disease 2019 (COVID‐19). In addition to vaccination, severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) neutralizing antibodies (nAbs) have been applied throughout the pandemic, with time of treatment onset and potency against the currently prevailing virus variant identified as relevant factors for medical benefit. Using data from the European Society for Immunodeficiencies (ESID) registry, the present study evaluated COVID‐19 cases in three groups of patients with inborn errors of immunity (IEI; 981 agammaglobulinemia patients on immunoglobulin replacement therapy (IGRT); 8960 non‐agammaglobulinemia patients on IGRT; 14 428 patients without IGRT), and the neutralizing capacity of 1100 immunoglobulin lots against SARS‐CoV‐2 ("Wuhan" and Omicron strains), throughout 3 years. From the first (2020/2021) to the second (2021/2022) cold season, i.e., during the virus drift to the more contagious Omicron variants, an increase in case numbers was recorded that was comparable (~2‐ to 3‐fold) for all three study groups. During the same period, immunoglobulin lots showed a profound nAb increase against the archetypal SARS‐CoV‐2 strain, yet only low levels of Omicron nAbs. Notably, shortly before the third (2022/2023) cold season, Omicron‐neutralizing capacity of released immunoglobulin lots had plateaued at high levels. From the second to the third cold season, COVID‐19 cases dropped markedly. While a ~6‐fold case reduction was recorded for the groups of non‐agammaglobulinemia patients on IGRT and IEI patients not receiving IGRT, the decline was ~30‐fold for the group of agammaglobulinemia patients on IGRT. These findings suggest a substantial COVID‐19‐protective effect of IGRT, at least for distinct groups of antibody‐deficient patients. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
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Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., and Seidel, Markus G.
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- 2020
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17. Treatment with rapamycin can restore regulatory T-cell function in IPEX patients
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Passerini, Laura, Barzaghi, Federica, Curto, Rosalia, Sartirana, Claudia, Barera, Graziano, Tucci, Francesca, Albarello, Luca, Mariani, Alberto, Testoni, Pier Alberto, Bazzigaluppi, Elena, Bosi, Emanuele, Lampasona, Vito, Neth, Olaf, Zama, Daniele, Hoenig, Manfred, Schulz, Ansgar, Seidel, Markus G., Rabbone, Ivana, Olek, Sven, Roncarolo, Maria G., Cicalese, Maria P., Aiuti, Alessandro, and Bacchetta, Rosa
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- 2020
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18. Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film
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Zaninetti, Carlo, primary, Baschin, Marcel, additional, Vater, Leonard, additional, Karastaneva, Anna, additional, Holzhauer, Susanne, additional, Leinøe, Eva, additional, Ørslev Rasmussen, Andreas, additional, Wesche, Jan, additional, Freyer, Carmen, additional, Seidel, Markus G., additional, and Greinacher, Andreas, additional
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- 2023
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19. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
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Bode, Sebastian Fn, Ammann, Sandra, Al-Herz, Waleed, Bataneant, Mihaela, Dvorak, Christopher C, Gehring, Stephan, Gennery, Andrew, Gilmour, Kimberly C, Gonzalez-Granado, Luis I, Groß-Wieltsch, Ute, Ifversen, Marianne, Lingman-Framme, Jenny, Matthes-Martin, Susanne, Mesters, Rolf, Meyts, Isabelle, van Montfrans, Joris M, Pachlopnik Schmid, Jana, Pai, Sung-Yun, Soler-Palacin, Pere, Schuermann, Uta, Schuster, Volker, Seidel, Markus G, Speckmann, Carsten, Stepensky, Polina, Sykora, Karl-Walter, Tesi, Bianca, Vraetz, Thomas, Waruiru, Catherine, Bryceson, Yenan T, Moshous, Despina, Lehmberg, Kai, Jordan, Michael B, and Ehl, Stephan
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Biomedical and Clinical Sciences ,Clinical Sciences ,Rare Diseases ,Hematology ,Clinical Research ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Adolescent ,Adult ,Bacterial Infections ,Child ,Child ,Preschool ,Diagnosis ,Differential ,Europe ,Female ,Humans ,Immunoglobulins ,Intravenous ,Immunologic Deficiency Syndromes ,Immunologic Factors ,Infant ,Infant ,Newborn ,Killer Cells ,Natural ,Leishmaniasis ,Lymphohistiocytosis ,Hemophagocytic ,Lymphoproliferative Disorders ,Male ,Mycoses ,Opportunistic Infections ,Registries ,Steroids ,T-Lymphocytes ,Terminology as Topic ,Virus Diseases ,Inborn Errors Working Party of the EBMT ,Cardiorespiratory Medicine and Haematology ,Immunology ,Cardiovascular medicine and haematology - Abstract
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with
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- 2015
20. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
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Abinun, Mario, Albert, Michael, Cohen, Sarah Beaussant, Bustamante, Jacinta, Cant, Andrew, Casanova, Jean-Laurent, Chapel, Helen, de Saint Basile, Genevieve, de Vries, Esther, Dokal, Inderjeet, Donadieu, Jean, Durandy, Anne, Edgar, David, Espanol, Teresa, Etzioni, Amos, Fischer, Alain, Gaspar, Bobby, Gatti, Richard, Gennery, Andrew, Grigoriadou, Sofia, Holland, Steven, Janka, Gritta, Kanariou, Maria, Klein, Christoph, Lachmann, Helen, Lilic, Desa, Manson, Ania, Martinez, Natalia, Meyts, Isabelle, Moes, Nicolette, Moshous, Despina, Neven, Benedicte, Ochs, Hans, Picard, Capucine, Renner, Ellen, Rieux-Laucat, Frederic, Seger, Reinhard, Soresina, Annarosa, Stoppa-Lyonnet, Dominique, Thon, Vojtech, Thrasher, Adrian, van de Veerdonk, Frank, Villa, Anna, Weemaes, Corry, Warnatz, Klaus, Wolska, Beata, Zhang, Shen-Yin, Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, and Ehl, Stephan
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- 2019
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21. Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film.
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Zaninetti, Carlo, Baschin, Marcel, Vater, Leonard, Karastaneva, Anna, Holzhauer, Susanne, Leinøe, Eva, Ørslev Rasmussen, Andreas, Wesche, Jan, Freyer, Carmen, Seidel, Markus G., and Greinacher, Andreas
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BLOOD platelet disorders ,BLOOD platelets ,TRANSCRIPTION factors ,IMMUNOFLUORESCENCE ,THROMBOCYTOPENIA ,LEUCOCYTES - Abstract
This article discusses a study on a rare genetic disorder called ETV6-related thrombocytopenia (ETV6-RT). The study examined the platelets of twelve patients with ETV6-RT and found that they had an increased expression of the ETV6 protein, which is transferred from bone marrow megakaryocytes to platelets. The study also observed alterations in δ-granule markers in some patients, indicating a potential δ-storage pool disorder. The findings suggest that immunofluorescence microscopy can be used as a screening tool for ETV6-RT, especially in cases of mild-to-moderate thrombocytopenia with normal platelet size. However, further research is needed to confirm these findings and validate them as a specific signature of the disease. [Extracted from the article]
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- 2024
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22. Json2Xlsx: Extraction and visualization of nested data in a sparse spreadsheet
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Scheible, Raphael, primary, Rusch, Stephan, additional, Maccari, Maria Elena, additional, Seidel, Markus G., additional, Ehl, Stephan, additional, Nieters, Alexandra, additional, and Kindle, Gerhard, additional
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- 2023
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23. Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome
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Erlacher, Miriam, primary, Andresen, Felicia, additional, Sukova, Martina, additional, Stary, Jan, additional, De Moerloose, Barbara, additional, Bosch, Jutte van der Werff Ten, additional, Dworzak, Michael, additional, Seidel, Markus G., additional, Polychronopoulou, Sophia, additional, Beier, Rita, additional, Kratz, Christian M., additional, Nathrath, Michaela, additional, Frühwald, Michael C., additional, Göhring, Gudrun, additional, Bergmann, Anke K., additional, Mayerhofer, Christina, additional, Lebrecht, Dirk, additional, Ramamoorthy, Senthilkumar, additional, Yoshimi, Ayami, additional, Strahm, Brigitte, additional, Wlodarski, Marcin W., additional, and Niemeyer, Charlotte M., additional
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- 2023
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24. Complications of Immunosuppression in Pediatric Surgery
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Seidel, Markus G., primary
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- 2020
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25. Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
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Seidel, Markus G., Tesch, Victoria K., Yang, Linlin, Hauck, Fabian, Horn, Anna Lena, Smolle, Maria Anna, Quehenberger, Franz, and Benesch, Martin
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- 2022
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26. Successful Treatment with SCIG of a Child with Refractory Chronic ITP
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Karastaneva, Anna, Klobassa, Daniela S., Minkov, Milen, Benesch, Martin, and Seidel, Markus G.
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- 2019
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27. 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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Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional
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- 2023
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28. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José M., Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph B., Colino, Elena, Santos-Perez, Juan Luis, Marco, Francisco M., Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart E., Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier Gonzalo, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine M., Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel Ángel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel H., Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María Teresa, Alfaro, Rafael, Rodríguez de Castro, Felipe, Kindle, Gerhard, Mahlaoui, Nizar, Seidel, Markus G., Vassilios, Lougaris, Seppänen, Mikko R.J., Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Baris Feldman, Hagit, Belot, Alexandre, Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Bustamante, Carlos D., Butte, Manish J., Casari, Giorgio, Christodoulou, John, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., El Baghdadi, Jamila, Espinosa-Padilla, Sara, Fellay, Jacques, Franco, José Luis, Froidure, Antoine, Gregersen, Peter K., Grimbacher, Bodo, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Henrickson, Sarah E., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich D., Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O’Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebecca, Perlin, David S., Pesole, Graziano, Planas, Anna M., Pujol, Aurora, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänan, Mikko R.J., Shahrooei, Mohammed, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Uddin, K M Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Su, Helen C., Casanova, Jean-Laurent, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Cobat, Aurélie, Zhang, Qian, Alsina, Laia, ESID Registry Working Party, [missing], COVID Human Genetic Effort, [missing], AII - Infectious diseases, Amsterdam Neuroscience - Neuroinfection & -inflammation, and Neurology
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SARS-CoV-2 ,Immunology ,Signal Transducing ,COVID-19 ,Adaptor Proteins ,Settore MED/03 ,Toll-Like Receptor 7 ,Myeloid Differentiation Factor 88 ,Medicine and Health Sciences ,COVID-19/complications ,Immunology and Allergy ,Humans ,Myeloid Differentiation Factor 88/genetics ,Child ,Adaptor Proteins, Signal Transducing - Abstract
X-linked recessive deficiency of TLR7, a MyD88- and IRAK-4-dependent endosomal ssRNA sensor, impairs SARS-CoV-2 recognition and type I IFN production in plasmacytoid dendritic cells (pDCs), thereby underlying hypoxemic COVID-19 pneumonia with high penetrance. We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds from eight countries on three continents. 16 patients were hospitalized: six with moderate, four with severe, and six with critical pneumonia, one of whom died. The risk of hypoxemic pneumonia increased with age. The risk of invasive mechanical ventilation was also much greater than in age-matched controls from the general population (OR: 74.7, 95% CI: 26.8-207.8, P < 0.001). The patients' susceptibility to SARS-CoV-2 can be attributed to impaired TLR7-dependent type I IFN production by pDCs, which do not sense SARS-CoV-2 correctly. Patients with inherited MyD88 or IRAK-4 deficiency were long thought to be selectively vulnerable to pyogenic bacteria, but also have a high risk of hypoxemic COVID-19 pneumonia. ispartof: JOURNAL OF EXPERIMENTAL MEDICINE vol:220 issue:5 ispartof: location:United States status: published
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- 2023
29. Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents—a single centre experience of 20 years
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Strenger, Volker, Merth, Gerald, Lackner, Herwig, Aberle, Stephan W., Kessler, Harald H., Seidel, Markus G., Schwinger, Wolfgang, Sperl, Daniela, Sovinz, Petra, Karastaneva, Anna, Benesch, Martin, and Urban, Christian
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- 2018
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30. Supplementary Figure 3 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
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Wolska-Kusnierz, Beata, primary, Pastorczak, Agata, primary, Fendler, Wojciech, primary, Wakulinska, Anna, primary, Dembowska-Baginska, Bozena, primary, Heropolitanska-Pliszka, Edyta, primary, Piątosa, Barbara, primary, Pietrucha, Barbara, primary, Kałwak, Krzysztof, primary, Ussowicz, Marek, primary, Pieczonka, Anna, primary, Drabko, Katarzyna, primary, Lejman, Monika, primary, Koltan, Sylwia, primary, Gozdzik, Jolanta, primary, Styczynski, Jan, primary, Fedorova, Alina, primary, Miakova, Natalia, primary, Deripapa, Elena, primary, Kostyuchenko, Larysa, primary, Krenova, Zdenka, primary, Hlavackova, Eva, primary, Gennery, Andrew R., primary, Sykora, Karl-Walter, primary, Ghosh, Sujal, primary, Albert, Michael H., primary, Balashov, Dmitry, primary, Eapen, Mary, primary, Svec, Peter, primary, Seidel, Markus G., primary, Kilic, Sara S., primary, Tomaszewska, Agnieszka, primary, Wiesik-Szewczyk, Ewa, primary, Kreins, Alexandra, primary, Greil, Johann, primary, Buechner, Jochen, primary, Lund, Bendik, primary, Gregorek, Hanna, primary, Chrzanowska, Krystyna, primary, and Mlynarski, Wojciech, primary
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- 2023
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31. Supplementary figure 2 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
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Wolska-Kusnierz, Beata, primary, Pastorczak, Agata, primary, Fendler, Wojciech, primary, Wakulinska, Anna, primary, Dembowska-Baginska, Bozena, primary, Heropolitanska-Pliszka, Edyta, primary, Piątosa, Barbara, primary, Pietrucha, Barbara, primary, Kałwak, Krzysztof, primary, Ussowicz, Marek, primary, Pieczonka, Anna, primary, Drabko, Katarzyna, primary, Lejman, Monika, primary, Koltan, Sylwia, primary, Gozdzik, Jolanta, primary, Styczynski, Jan, primary, Fedorova, Alina, primary, Miakova, Natalia, primary, Deripapa, Elena, primary, Kostyuchenko, Larysa, primary, Krenova, Zdenka, primary, Hlavackova, Eva, primary, Gennery, Andrew R., primary, Sykora, Karl-Walter, primary, Ghosh, Sujal, primary, Albert, Michael H., primary, Balashov, Dmitry, primary, Eapen, Mary, primary, Svec, Peter, primary, Seidel, Markus G., primary, Kilic, Sara S., primary, Tomaszewska, Agnieszka, primary, Wiesik-Szewczyk, Ewa, primary, Kreins, Alexandra, primary, Greil, Johann, primary, Buechner, Jochen, primary, Lund, Bendik, primary, Gregorek, Hanna, primary, Chrzanowska, Krystyna, primary, and Mlynarski, Wojciech, primary
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- 2023
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32. Supplementary figure 1 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
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Wolska-Kusnierz, Beata, primary, Pastorczak, Agata, primary, Fendler, Wojciech, primary, Wakulinska, Anna, primary, Dembowska-Baginska, Bozena, primary, Heropolitanska-Pliszka, Edyta, primary, Piątosa, Barbara, primary, Pietrucha, Barbara, primary, Kałwak, Krzysztof, primary, Ussowicz, Marek, primary, Pieczonka, Anna, primary, Drabko, Katarzyna, primary, Lejman, Monika, primary, Koltan, Sylwia, primary, Gozdzik, Jolanta, primary, Styczynski, Jan, primary, Fedorova, Alina, primary, Miakova, Natalia, primary, Deripapa, Elena, primary, Kostyuchenko, Larysa, primary, Krenova, Zdenka, primary, Hlavackova, Eva, primary, Gennery, Andrew R., primary, Sykora, Karl-Walter, primary, Ghosh, Sujal, primary, Albert, Michael H., primary, Balashov, Dmitry, primary, Eapen, Mary, primary, Svec, Peter, primary, Seidel, Markus G., primary, Kilic, Sara S., primary, Tomaszewska, Agnieszka, primary, Wiesik-Szewczyk, Ewa, primary, Kreins, Alexandra, primary, Greil, Johann, primary, Buechner, Jochen, primary, Lund, Bendik, primary, Gregorek, Hanna, primary, Chrzanowska, Krystyna, primary, and Mlynarski, Wojciech, primary
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- 2023
- Full Text
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33. Supplementary Table 1 from Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
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Wolska-Kusnierz, Beata, primary, Pastorczak, Agata, primary, Fendler, Wojciech, primary, Wakulinska, Anna, primary, Dembowska-Baginska, Bozena, primary, Heropolitanska-Pliszka, Edyta, primary, Piątosa, Barbara, primary, Pietrucha, Barbara, primary, Kałwak, Krzysztof, primary, Ussowicz, Marek, primary, Pieczonka, Anna, primary, Drabko, Katarzyna, primary, Lejman, Monika, primary, Koltan, Sylwia, primary, Gozdzik, Jolanta, primary, Styczynski, Jan, primary, Fedorova, Alina, primary, Miakova, Natalia, primary, Deripapa, Elena, primary, Kostyuchenko, Larysa, primary, Krenova, Zdenka, primary, Hlavackova, Eva, primary, Gennery, Andrew R., primary, Sykora, Karl-Walter, primary, Ghosh, Sujal, primary, Albert, Michael H., primary, Balashov, Dmitry, primary, Eapen, Mary, primary, Svec, Peter, primary, Seidel, Markus G., primary, Kilic, Sara S., primary, Tomaszewska, Agnieszka, primary, Wiesik-Szewczyk, Ewa, primary, Kreins, Alexandra, primary, Greil, Johann, primary, Buechner, Jochen, primary, Lund, Bendik, primary, Gregorek, Hanna, primary, Chrzanowska, Krystyna, primary, and Mlynarski, Wojciech, primary
- Published
- 2023
- Full Text
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34. The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis
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Hartz, Bernd, Marsh, Rebecca, Rao, Kanchan, Henter, Jan-Inge, Jordan, Michael, Filipovich, Lisa, Bader, Peter, Beier, Rita, Burkhardt, Birgit, Meisel, Roland, Schulz, Ansgar, Winkler, Beate, Albert, Michael H., Greil, Johann, Karasu, Gülsün, Woessmann, Wilhelm, Corbacioglu, Selim, Gruhn, Bernd, Holter, Wolfgang, Kühl, Jörn-Sven, Lang, Peter, Seidel, Markus G., Veys, Paul, Löfstedt, Alexandra, Ammann, Sandra, Ehl, Stephan, Janka, Gritta, Müller, Ingo, and Lehmberg, Kai
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- 2016
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35. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
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Gámez-Díaz, Laura, August, Dietrich, Stepensky, Polina, Revel-Vilk, Shoshana, Seidel, Markus G., Noriko, Mitsuiki, Morio, Tomohiro, Worth, Austen J.J., Blessing, Jacob, Van de Veerdonk, Frank, Feuchtinger, Tobias, Kanariou, Maria, Schmitt-Graeff, Annette, Jung, Sophie, Seneviratne, Suranjith, Burns, Siobhan, Belohradsky, Bernd H., Rezaei, Nima, Bakhtiar, Shahrzad, Speckmann, Carsten, Jordan, Michael, and Grimbacher, Bodo
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- 2016
- Full Text
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36. The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies
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Kindler, Oliver, Quehenberger, Franz, Benesch, Martin, and Seidel, Markus G.
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- 2018
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37. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency
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Alkhairy, Omar K., Perez-Becker, Ruy, Driessen, Gertjan J., Abolhassani, Hassan, van Montfrans, Joris, Borte, Stephan, Choo, Sharon, Wang, Ning, Tesselaar, Kiki, Fang, Mingyan, Bienemann, Kirsten, Boztug, Kaan, Daneva, Ana, Mechinaud, Francoise, Wiesel, Thomas, Becker, Christian, Dückers, Gregor, Siepermann, Kathrin, van Zelm, Menno C., Rezaei, Nima, van der Burg, Mirjam, Aghamohammadi, Asghar, Seidel, Markus G., Niehues, Tim, and Hammarström, Lennart
- Published
- 2015
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38. Transient Monosomy 7 Is a Rare Event in Young Children with SAMD9L Syndrome
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Andresen, Felicia, primary, Sukova, Martina, additional, Stary, Jan, additional, De Moerloose, Barbara, additional, Van Der Werff Ten Bosch, Jutte, additional, Dworzak, Michael, additional, Seidel, Markus G, additional, Polychronopoulou, Sophia, additional, Beier, Rita, additional, Kratz, Christian P., additional, Nathrath, Michaela, additional, Frühwald, Michael C., additional, Göhring, Gudrun, additional, Bergmann, Anke K., additional, Mayerhofer, Christina, additional, Rotari, Natalia, additional, Lebrecht, Dirk, additional, Ramamoorthy, Senthilkumar, additional, Yoshimi, Ayami, additional, Strahm, Brigitte, additional, Wlodarski, Marcin W, additional, Niemeyer, Charlotte M., additional, and Erlacher, Miriam, additional
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- 2022
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39. Concurrence of a kinase‐dead BRAF and an oncogenic KRAS gain‐of‐function mutation in juvenile xanthogranuloma
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Seidel, Markus G, primary, Brcic, Luka, additional, Hoefler, Gerald, additional, Hutter, Caroline, additional, Minkov, Milen, additional, Steffen, Laura Sophie, additional, Zebisch, Armin, additional, and Benesch, Martin, additional
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- 2022
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40. Transient monosomy 7 is a rare event in young children with SAMD9L syndrome [Abstract]
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Andresen, Felicia, Sukova, Martina, Stary, Jan, De Mörloose, Barbara, Van Der Werff Ten Bosch, Jutte, Dworzak, Michael, Seidel, Markus G., Polychronopoulou, Sophia, Beier, Rita, Kratz, Christian P., Nathrath, Michaela, Frühwald, Michael C., Göhring, Gudrun, Bergmann, Anke K., Mayerhofer, Christina, Rotari, Natalia, Lebrecht, Dirk, Ramamoorthy, Senthilkumar, Yoshimi, Ayami, Strahm, Brigitte, Wlodarski, Marcin W., Niemeyer, Charlotte M., and Erlacher, Miriam
- Subjects
ddc:610 - Published
- 2022
41. Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation
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Bakhtiar, Shahrzad, primary, Kaffenberger, Celia, additional, Salzmann-Manrique, Emilia, additional, Donhauser, Sabine, additional, Lueck, Leon, additional, Karaca, Neslihan Edeer, additional, Gonzalez-Granado, Luis I., additional, Hazar, Esra, additional, Keles, Sevgi, additional, Seidel, Markus G., additional, Fekadu, Julia, additional, Königs, Christoph, additional, Schubert, Ralf, additional, Bader, Peter, additional, and Huenecke, Sabine, additional
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- 2022
- Full Text
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42. Clinical implementation of plasma cell-free circulating tumor DNA quantification by digital droplet PCR for the monitoring of Ewing sarcoma in children and adolescents
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Seidel, Markus G., primary, Kashofer, Karl, additional, Moser, Tina, additional, Thueringer, Andrea, additional, Liegl-Atzwanger, Bernadette, additional, Leithner, Andreas, additional, Szkandera, Joanna, additional, Benesch, Martin, additional, El-Heliebi, Amin, additional, and Heitzer, Ellen, additional
- Published
- 2022
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43. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
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Yang, Linlin, primary, Booth, Claire, additional, Speckmann, Carsten, additional, Seidel, Markus G., additional, Worth, Austen J.J., additional, Kindle, Gerhard, additional, Lankester, Arjan C., additional, Grimbacher, Bodo, additional, Gennery, Andrew R., additional, Seppanen, Mikko R.J., additional, Morris, Emma C., additional, Burns, Siobhan O., additional, Sediva, Anna, additional, Neven, Benedicte, additional, Hauck, Fabian, additional, Warnatz, Klaus, additional, Pac, Malgorzata, additional, Carrabba, Maria, additional, Palacin, Pere, additional, Jandus, Peter, additional, Gardulf, Ann, additional, Mahlaoui, Nizar, additional, Pergent, Martine, additional, Schutz, Catharina, additional, Sharapova, Svetlana, additional, Vassilios, Lougaris, additional, Candotti, Fabio, additional, and Volpi, Stephano, additional
- Published
- 2022
- Full Text
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44. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment
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Seidel, Markus G.
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- 2014
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45. Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders
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Hauck, Fabian, Voss, Rebecca, Urban, Christian, and Seidel, Markus G.
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- 2018
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46. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ
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Salzer, Elisabeth, Santos-Valente, Elisangela, Klaver, Stefanie, Ban, Sol A., Emminger, Wolfgang, Prengemann, Nina Kathrin, Garncarz, Wojciech, Müllauer, Leonhard, Kain, Renate, Boztug, Heidrun, Heitger, Andreas, Arbeiter, Klaus, Eitelberger, Franz, Seidel, Markus G., Holter, Wolfgang, Pollak, Arnold, Pickl, Winfried F., Förster-Waldl, Elisabeth, and Boztug, Kaan
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- 2013
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47. Therapeutic options for CTLA-4 insufficiency
- Author
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Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo
- Abstract
Background: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. Objective: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. Methods: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. Results: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. Conclusion: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.
- Published
- 2022
48. Therapeutic options for CTLA-4 insufficiency
- Author
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German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo
- Abstract
[Background]: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness., [Objective]: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level., [Methods]: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated., [Results]: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed., [Conclusion]: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.
- Published
- 2022
49. Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
- Author
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Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan, Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, and Boztug, Kaan
- Abstract
Background: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. Objectives: We sought to systematically review available terms in HPO for the depiction of IEIs, to expand HPO, yielding more comprehensive sets of terms, and to reannotate IEIs with HPO terms to provide accurate, standardized phenotypic descriptions. Methods: We initiated a collaboration involving expert clinicians, geneticists, researchers working on IEIs, and bioinformaticians. Multiple branches of the HPO tree were restructured and extended on the basis of expert review. Our ontology-guided machine learning coupled with a 2-tier expert review was applied to reannotate defined subgroups of IEIs. Results: We revised and expanded 4 main branches of the HPO tree. Here, we reannotated 73 diseases from 4 International Union of Immunological Societies–defined IEI disease subgroups with HPO terms. We achieved a 4.7-fold increase in the number of phenotypic terms per disease. Given the new HPO annotations, we demonstrated improved ability to computationally match selected IEI cases to their known diagnosis, and improved phenotype-driven disease classification. Conclusions: Our targeted expansion and reannotation presents enhanced precision of disease annotation, will enable superior HPO-based IEI characterization, and hence benefit both IEI diagnostic and research activities.
- Published
- 2022
50. Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation
- Author
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Seidel, Markus G., Böhm, Katrin, Dogu, Figen, Worth, Austen, Thrasher, Adrian, Florkin, Benoit, İkincioğulları, Aydan, Peters, Anke, Bakhtiar, Shahrzad, Meeths, Marie, Stepensky, Polina, Meyts, Isabelle, Sharapova, Svetlana O., Gámez-Díaz, Laura, Hammarström, Lennart, Ehl, Stephan, Grimbacher, Bodo, and Gennery, Andrew R.
- Published
- 2018
- Full Text
- View/download PDF
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