Search Results - "Van Der Made, Caspar"

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives by Vorsteveld, Emil E., Hoischen, Alexander, van der Made, Caspar I.

“…Primary immunodeficiencies comprise a group of inborn errors of immunity that display significant clinical and genetic heterogeneity. Next-generation…”
Get full text

Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19 by van der Made, Caspar I, Netea, Mihai G, van der Veerdonk, Frank L, Hoischen, Alexander

“…Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights have been gained into virus biology and the host factors that modulate…”
Get full text

Genetic Predisposition to Neurological Complications in Patients with COVID-19 by Sahajpal, Nikhil Shri, Hastie, Alex R, Schieck, Maximilian, Mondal, Ashis K, Felde, Marc, van der Made, Caspar I, Chou, Janet S, Randolph, Adrienne G, Illig, Thomas, Zody, Michael C, Brownstein, Catherine A, Beggs, Alan H, Hoischen, Alexander, Chaubey, Alka, Kolhe, Ravindra

“…Several studies have identified rare and common genetic variants associated with severe COVID-19, but no study has reported genetic determinants as…”
Get full text

Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS by van der Made, Caspar I., Potjewijd, Judith, Hoogstins, Annemiek, Willems, Huub P.J., Kwakernaak, Arjan J., de Sevaux, Ruud G.L., van Daele, Paul L.A., Simons, Annet, Heijstek, Marloes, Beck, David B., Netea, Mihai G., van Paassen, Pieter, Elizabeth Hak, A., van der Veken, Lars T., van Gijn, Marielle E., Hoischen, Alexander, van de Veerdonk, Frank L., Leavis, Helen L., Rutgers, Abraham

“…A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were…”
Get full text

Presence of Genetic Variants Among Young Men With Severe COVID-19 by van der Made, Caspar I, Simons, Annet, Schuurs-Hoeijmakers, Janneke, van den Heuvel, Guus, Mantere, Tuomo, Kersten, Simone, van Deuren, Rosanne C, Steehouwer, Marloes, van Reijmersdal, Simon V, Jaeger, Martin, Hofste, Tom, Astuti, Galuh, Corominas Galbany, Jordi, van der Schoot, Vyne, van der Hoeven, Hans, Hagmolen of ten Have, Wanda, Klijn, Eva, van den Meer, Catrien, Fiddelaers, Jeroen, de Mast, Quirijn, Bleeker-Rovers, Chantal P, Joosten, Leo A. B, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel, van der Meer, Jos W. M, Brunner, Han G, Netea, Mihai G, van de Veerdonk, Frank L, Hoischen, Alexander

“…IMPORTANCE: Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some…”
Get full text

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19 by Sahajpal, Nikhil Shri, Jill Lai, Chi-Yu, Hastie, Alex, Mondal, Ashis K., Dehkordi, Siavash Raeisi, van der Made, Caspar I., Fedrigo, Olivier, Al-Ajli, Farooq, Jalnapurkar, Sawan, Byrska-Bishop, Marta, Kanagal-Shamanna, Rashmi, Levy, Brynn, Schieck, Maximilian, Illig, Thomas, Bacanu, Silviu-Alin, Chou, Janet S., Randolph, Adrienne G., Rojiani, Amyn M., Zody, Michael C., Brownstein, Catherine A., Beggs, Alan H., Bafna, Vineet, Jarvis, Erich D., Hoischen, Alexander, Chaubey, Alka, Kolhe, Ravindra

“…Impressive global efforts have identified both rare and common gene variants associated with severe COVID-19 using sequencing technologies. However, these…”
Get full text

Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study by Teufel, Lisa U., van der Made, Caspar I., Klück, Viola, Simons, Annet, Hoischen, Alexander, Vernimmen, Vivian, Joosten, Leo A.B., Arts, Rob J.W.

“…•A heterozygous pLoF variant in IL37 (IL37 Chr2(GRCh37):g.113670640G > A NM_014439.3:c.51G > A p.(Trp17*)) was identified in a single patient with a…”
Get full text

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 by Solanich, Xavier, Vargas-Parra, Gardenia, van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, Antolí, Arnau, del Valle, Jesús, Rocamora-Blanch, Gemma, Setién, Fernando, Esteller, Manel, van Reijmersdal, Simon V., Riera-Mestre, Antoni, Sabater-Riera, Joan, Capellá, Gabriel, van de Veerdonk, Frank L., van der Hoven, Ben, Corbella, Xavier, Hoischen, Alexander, Lázaro, Conxi

“…IntroductionLoss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We…”
Get full text

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency by Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy, Rico C., Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar I., Jimenez Heredia, Raul, Harms, Frederike L., Alavi, Samin, Alsina, Laia, Sanchez Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han G., Nooitgedagt-Frons, Judith E., Iglesias, Estíbaliz, Deyà-Martinez, Angela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes B., Pickl, Winfried F., Distel, Martin, Yoder, Jeffrey A., Traver, David, Engelhardt, Karin R., Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap D., Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

“…In this study, DOCK11 was shown to regulate T-cell shape and migration and erythroid development. Inherited loss-of-function variants in DOCK11 led to…”
Get full text

Primary immunodeficiencies in cytosolic pattern‐recognition receptor pathways: Toward host‐directed treatment strategies by Made, Caspar I., Hoischen, Alexander, Netea, Mihai G., Veerdonk, Frank L.

“…In the last decade, the paradigm of primary immunodeficiencies (PIDs) as rare recessive familial diseases that lead to broad, severe, and early‐onset…”
Get full text

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation by Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I, Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E, Hoischen, Alexander, 't Hoen, Peter A C

“…Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed…”
Get full text

Dexamethasone attenuates interferon-related cytokine hyperresponsiveness in COVID-19 patients by Engel, Job J., van der Made, Caspar I., Keur, Nick, Setiabudiawan, Todia, Röring, Rutger J., Damoraki, Georgia, Dijkstra, Helga, Lemmers, Heidi, Ioannou, Sofia, Poulakou, Garyfallia, van der Meer, Jos W. M., Giamarellos-Bourboulis, Evangelos J., Kumar, Vinod, van de Veerdonk, Frank L., Netea, Mihai G., Ziogas, Athanasios

“…BackgroundDexamethasone improves the survival of COVID-19 patients in need of supplemental oxygen therapy. Although its broad immunosuppressive effects are…”
Get full text

Multi-Omics Integration Reveals Only Minor Long-Term Molecular and Functional Sequelae in Immune Cells of Individuals Recovered From COVID-19 by Liu, Zhaoli, Kilic, Gizem, Li, Wenchao, Bulut, Ozlem, Gupta, Manoj Kumar, Zhang, Bowen, Qi, Cancan, Peng, He, Tsay, Hsin-Chieh, Soon, Chai Fen, Mekonnen, Yonatan Ayalew, Ferreira, Anaísa Valido, van der Made, Caspar I, van Cranenbroek, Bram, Koenen, Hans J P M, Simonetti, Elles, Diavatopoulos, Dimitri, de Jonge, Marien I, Müller, Lisa, Schaal, Heiner, Ostermann, Philipp N, Cornberg, Markus, Eiz-Vesper, Britta, van de Veerdonk, Frank, van Crevel, Reinout, Joosten, Leo A B, Domínguez-Andrés, Jorge, Xu, Cheng-Jian, Netea, Mihai G, Li, Yang

“…The majority of COVID-19 patients experience mild to moderate disease course and recover within a few weeks. An increasing number of studies characterized the…”
Get full text

Multi-omic profiling of pathogen-stimulated primary immune cells by Salz, Renee, Vorsteveld, Emil E., van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Riepe, Tabea V., Hsieh, Tsung-han, Mhlanga, Musa, Netea, Mihai G., Volders, Pieter-Jan, Hoischen, Alexander, ’t Hoen, Peter A.C.

“…We performed long-read transcriptome and proteome profiling of pathogen-stimulated peripheral blood mononuclear cells (PBMCs) from healthy donors to discover…”
Get full text

TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell tolerance by Çakan, Elif, Ah Kioon, Marie Dominique, Garcia-Carmona, Yolanda, Glauzy, Salomé, Oliver, David, Yamakawa, Natsuko, Vega Loza, Andrea, Du, Yong, Schickel, Jean-Nicolas, Boeckers, Joshua M, Yang, Chao, Baldo, Alessia, Ivashkiv, Lionel B, Young, Ryan M, Staudt, Louis M, Moody, Krishna L, Nündel, Kerstin, Marshak-Rothstein, Ann, van der Made, Caspar I, Hoischen, Alexander, Hayward, Anthony, Rossato, Marzia, Radstake, Timothy R D J, Cunningham-Rundles, Charlotte, Ryu, Changwan, Herzog, Erica L, Barrat, Franck J, Meffre, Eric

“…Central B cell tolerance is believed to be regulated by B cell receptor signaling induced by the recognition of self-antigens in immature B cells. Using…”
Get full text

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition by Arts, Rob J. W., van der Linden, Tristan J., van der Made, Caspar I., Hendriks, Marianne M. C., van der Heijden, Wouter A., de Mast, Quirijn, Schuurs-Hoeijmakers, Janneke H. M., Simons, Annet, Spaan, András N., Mulders-Manders, Catharina M., van de Veerdonk, Frank L.

“…Here, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in…”
Get full text

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis by Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander

“…While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing…”
Get full text

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome by van der Made, Caspar I., Kersten, Simone, Chorin, Odelia, Engelhardt, Karin R., Ramakrishnan, Gayatri, Griffin, Helen, Schim van der Loeff, Ina, Venselaar, Hanka, Rothschild, Annick Raas, Segev, Meirav, Schuurs-Hoeijmakers, Janneke H.M., Mantere, Tuomo, Essers, Rick, Esteki, Masoud Zamani, Avital, Amir L., Loo, Peh Sun, Simons, Annet, Pfundt, Rolph, Warris, Adilia, Seyger, Marieke M., van de Veerdonk, Frank L., Netea, Mihai G., Slatter, Mary A., Flood, Terry, Gennery, Andrew R., Simon, Amos J., Lev, Atar, Frizinsky, Shirley, Barel, Ortal, van der Burg, Mirjam, Somech, Raz, Hambleton, Sophie, Henriet, Stefanie S.V., Hoischen, Alexander

“…Mutations in proteasome β-subunits or their chaperone and regulatory proteins are associated with proteasome-associated autoinflammatory disorders (PRAAS). We…”
Get full text

“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease by Olyha, Sam J., O’Connor, Shannon K., Kribis, Marat, Bucklin, Molly L., Uthaya Kumar, Dinesh Babu, Tyler, Paul M., Alam, Faiad, Jones, Kate M., Sheikha, Hassan, Konnikova, Liza, Lakhani, Saquib A., Montgomery, Ruth R., Catanzaro, Jason, Du, Hongqiang, DiGiacomo, Daniel V., Rothermel, Holly, Moran, Christopher J., Fiedler, Karoline, Warner, Neil, Hoppenreijs, Esther P.A.H., van der Made, Caspar I., Hoischen, Alexander, Olbrich, Peter, Neth, Olaf, Rodríguez-Martínez, Alejandro, Lucena Soto, José Manuel, van Rossum, Annemarie M.C., Dalm, Virgil A.S.H., Muise, Aleixo M., Lucas, Carrie L.

“…Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate…”
Get full text

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study by Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke H M, Koenen, Hans J P M, Zonneveld-Huijssoon, Evelien, Henriet, Stefanie S V, Schatorjé, Ellen J H, Hoppenreijs, Esther P A H, Leenders, Erika K S M, Janssen, Etienne J M, Santen, Gijs W E, de Munnik, Sonja A, van Reijmersdal, Simon V, van Rijssen, Esther, Kersten, Simone, Netea, Mihai G, Smeets, Ruben L, van de Veerdonk, Frank L, Hoischen, Alexander, van der Made, Caspar I

“…variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of…”
Get full text