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1. Spatio-Temporal Anomaly Detection with Graph Networks for Data Quality Monitoring of the Hadron Calorimeter

Author

Asres, Mulugeta Weldezgina, Omlin, Christian Walter, Wang, Long, Yu, David, Parygin, Pavel, Dittmann, Jay, Karapostoli, Georgia, Seidel, Markus, Venditti, Rosamaria, Lambrecht, Luka, Usai, Emanuele, Ahmad, Muhammad, Menendez, Javier Fernandez, Maeshima, Kaori, and Collaboration, the CMS-HCAL

Subjects
Computer Science - Machine Learning, Computer Science - Artificial Intelligence
Abstract

The compact muon solenoid (CMS) experiment is a general-purpose detector for high-energy collision at the large hadron collider (LHC) at CERN. It employs an online data quality monitoring (DQM) system to promptly spot and diagnose particle data acquisition problems to avoid data quality loss. In this study, we present semi-supervised spatio-temporal anomaly detection (AD) monitoring for the physics particle reading channels of the hadronic calorimeter (HCAL) of the CMS using three-dimensional digi-occupancy map data of the DQM. We propose the GraphSTAD system, which employs convolutional and graph neural networks to learn local spatial characteristics induced by particles traversing the detector, and global behavior owing to shared backend circuit connections and housing boxes of the channels, respectively. Recurrent neural networks capture the temporal evolution of the extracted spatial features. We have validated the accuracy of the proposed AD system in capturing diverse channel fault types using the LHC Run-2 collision data sets. The GraphSTAD system has achieved production-level accuracy and is being integrated into the CMS core production system--for real-time monitoring of the HCAL. We have also provided a quantitative performance comparison with alternative benchmark models to demonstrate the promising leverage of the presented system., Comment: 23 pages, 15 figures, 3 tables

Published
2023
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2. Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich: Konsensuspapier des österreichischen NF-Netzwerks

Author

Azizi, Amedeo A., Baumgartner, Alicia-Christina, Seidel, Markus, Zobel, Joachim, Ebetsberger-Dachs, Georg, Zellner, Herta, Rauscher, Christian, Birnbacher, Robert, Pichler, Ursula, Haberlandt, Edda, Hedrich, Cora, Berghoff, Anna Sophie, Gruber, Robert W., Welponer, Tobias, Hutterer, Markus, Krottendorfer, Kerstin, Pletschko, Thomas, and Röhl, Claas

Published
2024
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3. Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers

Author

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, Boyarchuk, Oksana, Latysheva, Elena, Tuzankina, Irina, Shaker, Ahmad B., Ayala, Irmel, Sriaroon, Panida, Westermann-Clark, Emma, and Walter, Jolan E.

Published
2024
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5. Publisher Erratum: Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich

Author

Azizi, Amedeo A., Baumgartner, Alicia-Christina, Seidel, Markus, Zobel, Joachim, Ebetsberger-Dachs, Georg, Zellner, Herta, Rauscher, Christian, Birnbacher, Robert, Pichler, Ursula, Haberlandt, Edda, Hedrich, Cora, Berghoff, Anna Sophie, Gruber, Robert W., Welponer, Tobias, Hutterer, Markus, Krottendorfer, Kerstin, Pletschko, Thomas, and Röhl, Claas

Published
2024
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6. Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers

Author

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.

Published
2024
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7. HL-LHC Computing Review Stage-2, Common Software Projects: Event Generators

Author

WG, The HSF Physics Event Generator, Yazgan, Efe, McFayden, Josh, Valassi, Andrea, Amoroso, Simone, Bothmann, Enrico, Buckley, Andy, Campbell, John, Chahal, Gurpreet Singh, Childers, Taylor, Corti, Gloria, Frederix, Rikkert, Frixione, Stefano, Giuli, Francesco, Grohsjean, Alexander, Hoeche, Stefan, Ilten, Phil, Krauss, Frank, Kreps, Michal, Lange, David, Lonnblad, Leif, Marshall, Zach, Mattelaer, Olivier, Mrenna, Stephen, Nason, Paolo, Plaetzer, Simon, Preuss, Christian, Re, Emanuele, Roiser, Stefan, Schoenherr, Marek, Schumann, Steffen, Seidel, Markus, Sexton-Kennedy, Elizabeth, Siegert, Frank, Siodmok, Andrzej, Stewart, Graeme A., Sugunan, Aravind Thachayath, and Was, Zbigniew

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment, Physics - Computational Physics
Abstract

This paper has been prepared by the HEP Software Foundation (HSF) Physics Event Generator Working Group (WG), as an input to the second phase of the LHCC review of High-Luminosity LHC (HL-LHC) computing, which is due to take place in November 2021. It complements previous documents prepared by the WG in the context of the first phase of the LHCC review in 2020, including in particular the WG paper on the specific challenges in Monte Carlo event generator software for HL-LHC, which has since been updated and published, and which we are also submitting to the November 2021 review as an integral part of our contribution., Comment: 34 pages; editors Efe Yazgan, Josh McFayden and Andrea Valassi

Published
2021

9. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

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

Published
2024
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10. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

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

Published
2023
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11. A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.

Author

Maccari, Maria, Fuchs, Sebastian, Kury, Patrick, Andrieux, Geoffroy, Völkl, Simon, Bengsch, Bertram, Lorenz, Myriam, Heeg, Maximilian, Rohr, Jan, Jägle, Sabine, Castro, Carla, Groß, Miriam, Warthorst, Ursula, König, Christoph, Fuchs, Ilka, Speckmann, Carsten, Thalhammer, Julian, Kapp, Friedrich, Seidel, Markus, Dückers, Gregor, Schönberger, Stefan, Schütz, Catharina, Führer, Marita, Kobbe, Robin, Holzinger, Dirk, Klemann, Christian, Smisek, Petr, Owens, Stephen, Horneff, Gerd, Kolb, Reinhard, Naumann-Bartsch, Nora, Miano, Maurizio, Staniek, Julian, Rizzi, Marta, Kalina, Tomas, Schneider, Pascal, Erxleben, Anika, Backofen, Rolf, Ekici, Arif, Niemeyer, Charlotte, Warnatz, Klaus, Grimbacher, Bodo, Eibel, Hermann, Mackensen, Andreas, Frei, Andreas, Schwarz, Klaus, Boerries, Melanie, Ehl, Stephan, and Rensing-Ehl, Anne

Subjects
ADP-ribosyl Cyclase 1, Adolescent, Adult, Aged, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Leukocyte Common Antigens, Lymphocyte Activation, Lymphoproliferative Disorders, Male, Middle Aged, Signal Transduction, Young Adult, fas Receptor
Abstract

The identification and characterization of rare immune cell populations in humans can be facilitated by their growth advantage in the context of specific genetic diseases. Here, we use autoimmune lymphoproliferative syndrome to identify a population of FAS-controlled TCRαβ+ T cells. They include CD4+, CD8+, and double-negative T cells and can be defined by a CD38+CD45RA+T-BET- expression pattern. These unconventional T cells are present in healthy individuals, are generated before birth, are enriched in lymphoid tissue, and do not expand during acute viral infection. They are characterized by a unique molecular signature that is unambiguously different from other known T cell differentiation subsets and independent of CD4 or CD8 expression. Functionally, FAS-controlled T cells represent highly proliferative, noncytotoxic T cells with an IL-10 cytokine bias. Mechanistically, regulation of this physiological population is mediated by FAS and CTLA4 signaling, and its survival is enhanced by mTOR and STAT3 signals. Genetic alterations in these pathways result in expansion of FAS-controlled T cells, which can cause significant lymphoproliferative disease.

Published
2021

12. The Human Phenotype Ontology in 2021

Author

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

Subjects
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.

Published
2021

13. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Author

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

Subjects
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.

Published
2020

18. Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Author

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.

Published
2022
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22. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Author

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

Published
2021
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23. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

25. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional

Published
2024
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26. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

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

Published
2021
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27. Approximation sequences on Banach spaces: a rich approach

Author

Mascarenhas, Helena, Santos, Pedro A., and Seidel, Markus

Subjects
Mathematics - Functional Analysis, Mathematics - Numerical Analysis, Mathematics - Operator Algebras, 65R20, 45E10, 47G10, 47B35, 47L80, 47A58
Abstract

Criteria for the stability of finite sections of a large class of convolution type operators on $L^p(\mathbb{R})$ are obtained. In this class almost all classical symbols are permitted, namely operators of multiplication with functions in $[\textrm{PC} ,\textrm{SO}, L^\infty_0]$ and convolution operators (as well as Wiener-Hopf and Hankel operators) with symbols in $[\textrm{PC},\textrm{SO},\textrm{AP},\textrm{BUC}]_p$. We use a simpler and more powerful algebraic technique than all previous works: the application of $\mathcal{P}$-theory together with the rich sequences concept and localization. Beyond stability we study Fredholm theory in sequence algebras. In particular, formulas for the asymptotic behavior of approximation numbers and Fredholm indices are given.

Published
2016
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29. Computing Spectra -- On the Solvability Complexity Index Hierarchy and Towers of Algorithms

Author

Ben-Artzi, Jonathan, Colbrook, Matthew J., Hansen, Anders C., Nevanlinna, Olavi, and Seidel, Markus

Subjects
Computer Science - Computational Complexity, Mathematical Physics, Mathematics - Logic, Mathematics - Numerical Analysis, Mathematics - Spectral Theory, 47A10 (primary), 81Q10, 34L16, 46N40 (secondary)
Abstract

This paper establishes some of the fundamental barriers in the theory of computations and finally settles the long-standing computational spectral problem. That is to determine the existence of algorithms that can compute spectra $\mathrm{sp}(A)$ of classes of bounded operators $A = \{a_{ij}\}_{i,j \in \mathbb{N}} \in \mathcal{B}(l^2(\mathbb{N}))$, given the matrix elements $\{a_{ij}\}_{i,j \in \mathbb{N}}$, that are sharp in the sense that they achieve the boundary of what a digital computer can achieve. Similarly, for a Schr\"odinger operator $H = -\Delta+V$, determine the existence of algorithms that can compute the spectrum $\mathrm{sp}(H)$ given point samples of the potential function $V$. In order to solve these problems, we establish the Solvability Complexity Index (SCI) hierarchy and provide a collection of new algorithms that allow for problems that were previously out of reach. The SCI is the smallest number of limits needed in the computation, yielding a classification hierarchy for all types of problems in computational mathematics that determines the boundaries of what computers can achieve in scientific computing. In addition, the SCI hierarchy provides classifications of computational problems that can be used in computer-assisted proofs. The SCI hierarchy captures many key computational issues in the history of mathematics including the insolvability of the quintic, Smale's problem on the existence of iterative generally convergent algorithm for polynomial root finding, the computational spectral problem, inverse problems, optimisation etc.

Published
2015

30. Essential pseudospectra and essential norms of band-dominated operators

Author

Hagger, Raffael, Lindner, Marko, and Seidel, Markus

Subjects
Mathematics - Functional Analysis, Mathematics - Operator Algebras, 47A53 (Primary), 47B07, 46E40, 47B36, 47L80, 65J10 (Secondary)
Abstract

An operator $A$ on an $l^p$-space is called band-dominated if it can be approximated, in the operator norm, by operators with a banded matrix representation. The coset of $A$ in the Calkin algebra determines, for example, the Fredholmness of $A$, the Fredholm index, the essential spectrum, the essential norm and the so-called essential pseudospectrum of $A$. This coset can be identified with the collection of all so-called limit operators of $A$. It is known that this identification preserves invertibility (hence spectra). We now show that it also preserves norms and in particular resolvent norms (hence pseudospectra). In fact we work with a generalization of the ideal of compact operators, so-called $\mathcal{P}$-compact operators, allowing for a more flexible framework that naturally extends to $l^p$-spaces with $p\in\{1,\infty\}$ and/or vector-valued $l^p$-spaces., Comment: 39 pages; minor changes and corrections

Published
2015

31. Model uncertainties in top-quark physics

Author

Seidel, Markus

Subjects
High Energy Physics - Experiment, High Energy Physics - Phenomenology
Abstract

The ATLAS and CMS collaborations at the Large Hadron Collider (LHC) are studying the top quark in pp collisions at 7 and 8 TeV. Due to the large integrated luminosity, precision measurements of production cross-sections and properties are often limited by systematic uncertainties. An overview of the modeling uncertainties for simulated events is given in this report., Comment: Proceedings from the 7th International Workshop on Top Quark Physics, Cannes, France

Published
2014

32. Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.

Author

Karbiener, Michael, Kindle, Gerhard, Meyts, Isabelle, Seppänen, Mikko R. J., Candotti, Fabio, Kamieniak, Marta, Ilk, Reinhard, Kreil, Thomas R., and Seidel, Markus G.

Subjects
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]

Published
2024
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33. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Author

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.

Published
2020
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34. Treatment with rapamycin can restore regulatory T-cell function in IPEX patients

Author

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

Published
2020
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35. Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film

Author

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

Published
2023
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37. On Semi-Fredholm Band-Dominated Operators

Author

Seidel, Markus

Subjects
Mathematics - Functional Analysis, 47A53, 47L10, 47B36, 46E40
Abstract

In this paper we study the semi-Fredholm property of band-dominated operators $A$ and prove that it already implies the Fredholmness of $A$ in all cases where this is not disqualified by obvious reasons. Moreover, this observation is applied to show that the Fredholmness of a band-dominated operator already follows from the surjectivity of all its limit operators.

Published
2014
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38. An Affirmative Answer to a Core Issue on Limit Operators

Author

Lindner, Marko and Seidel, Markus

Subjects
Mathematics - Functional Analysis, Mathematics - Operator Algebras, 47A53, 47B07, 46E40, 47B36, 47L80
Abstract

An operator on an $l^{p}$-space is called band-dominated if it can be approximated, in the operator norm, by operators with a banded matrix representation. It is known that a rich band-dominated operator is $\mathcal{P}$-Fredholm (which is a generalization of the classical Fredholm property) if and only if all of its so-called limit operators are invertible and their inverses are uniformly bounded. We show that the condition on uniform boundedness is redundant in this statement.

Published
2014
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39. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

Author

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

Subjects
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

Published
2015

40. Fredholm theory for band-dominated and related operators: a survey

Author

Seidel, Markus

Subjects
Mathematics - Functional Analysis, Mathematics - Operator Algebras, 47A53, 47B07, 46E40, 47B36, 47L80
Abstract

This paper presents the Fredholm theory on l^p-spaces for band-dominated operators and important subclasses, such as operators in the Wiener algebra. It particularly closes several gaps in the previously known results for the case p=\infty and addresses the open questions raised in a paper by Chandler-Wilde and Lindner. The main tools are provided by the limit operator method and an algebraic framework for the description and adaption of Fredholmness and convergence. A comprehensive overview of this approach is given., Comment: 25 pages

Published
2013
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43. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Author

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

Published
2019
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46. Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film.

Author

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

Subjects
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]

Published
2024
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47. Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

Author

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

Published
2023
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