Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Authors: 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, 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., Simons, Annet, Hoischen, Alexander

Source: In Clinical Immunology November 2024 268

A multi-platform approach to identify a blood-based host protein signature for distinguishing between bacterial and viral infections in febrile children (PERFORM): a multi-cohort machine learning study

Authors: Jackson, Heather Ruth, Zandstra, Judith, Menikou, Stephanie, Hamilton, Shea, McArdle, Andrew J, De, Tisham, Agyeman, Philipp K A, Von Both, Ulrich, Carrol, Enitan D, Emonts, Marieke, Eleftheriou, Irini, Van der Flier, Michiel, Fink, Colin, De Groot, Ronald, Moll, Henriette A, Pokorn, Marko, Pollard, Andrew, Schlapbach, Luregn J, Tsolia, Maria, Usuf, Effua, Wright, Victoria, Yeung, Shunmay, Zavadska, Dace, Zenz, Werner, Coin, Lachlan JM, Cunnington, Aubrey J, Martinon-Torres, Federico, Herberg, Jethro, De Jonge, Marien I, Levin, Michael, Kuijpers, Taco, Kaforou, Myrsini, Abdulla, Amina, Aebi, Christoph, Agbeko, Rachel, Ali, Ladan, Alkema, Wynand, Allen, Karen, Anderson, Suzanne, Ansari, Imran, Arif, Tasnim, Avramoska, Tanja, Baas, Bryan, Bahovec, Natalija, Balode, Anda, Bãrdzdina, Arta, Barendregt, A M, Barral-Arca, Ruth, Bath, David, Bauchinger, Sebastian, Baumard, Lucas, Baumgart, Hinrich, Baxter, Frances, Bell, Kathryn, Bell, Ashley, Bello, Xabier, Bellos, Evangelos, Benesch, Martin, Bennet, Joshua, Berger, Christoph, Bernhard-Stirnemann, Sara, Bibi, Sagida, Bidlingmaier, Christoph, Binder, Alexander, Binder, Vera, Blackmore, Jennifer, Bojang, Kalifa, Borensztajn, Dorine M, Brengel-Pesce, Karen, Broderick, Claire, Buschbeck, Judith, Calvo-Bado, Leonides, Carnota, Sandra, Carter, Michael J, Castro, María Barreiro, Cebey-López, Miriam, Ceesay, Samba, Ceolotto, Astrid, Chan, Adora, Cocklin, Elizabeth, Collings, Kalvin, Crulley, Stephen, Curras-Tuala, María José, D'alessandro, Umberto, D'Souza, Giselle, Danhauser, Katharina, Darboe, Saffiatou, Darnell, Sarah, De Haan, L, De Vries, Gabriella, Deksne, Dãrta, Devine, Kirsty, Dewez, Juan Emmanuel, Dik, W, Dudley, Julia, Eber, Ernst, Fabian, Daniel, Farto, Cristina Balo, Fernández, Sonia Serén, Fidler, Katy, Fitchett, Elizabeth, Galassini, Rachel, Gallisti, Siegfried, García, Mirian Ben, Gardovska, Dace, Geissler, J, Gerrits, G P J M, Giannoni, Eric, Gloerich, Jolein, Gómez-Carballa, Alberto, González, Fernando Álves, Gores, Gunther, Grãvele, Dagne, Griese, Matthias, Grope, Ilze, Gurung, Meeru, Haas, Nikolaus, Habgood-Coote, Dominic, Hagedoorn, Nienke N, Haidl, Harald, Harrison, Rebekah, Hauer, Almuthe, Heidema, J, Heininger, Ulrich, Henriet, Stefanie, Hibberd, Martin, Hoggart, Cllive, Hösele, Susanne, Hourmat, Sara, Hude, Christa, Huijnen, Martijn, Iglesias, Pilar Leboráns, Iglesias, Marisol Vilas, Jennings, Rebecca, Johnson, Joanne, Jongerius, Ilse, Jorgensen, Rikke, Kahlert, Christian, Kandasamy, Rama, Kappler, Matthias, Keldorfer, Markus, Kelly, Dominic F, Khanijau, Aakash, Kim, Nayoung, Kim, Eunjung, King, Sharon, Kolberg, Laura, Kolnik, Mojca, Kloosterhuis, Lieke, Kohlfürst, Daniela S, Kohlmaier, Benno, Krenn, Larissa, Leigh, Simon, Leitner, Manuel, Leurent, Baptiste, Lim, Emma, Lin, Naomi, Liu, Ching-Chuan, Löffler, Sabine, Lurz, Eberhard, Mackerness, Christine, Maconochie, Ian, Mallet, Francois, Marmarinos, Antonis, Martin, Alex, Martin, Mike, Martinón Sánchez, José María, Martinón-Torres, Nazareth, McAlinden, Paul, McDonald, Sam, McDonell, Anne, Meiere, Anija, Meierford, Anne, Miedema, C J, Miners, Alec, Mistry, Ravi, Mommert, Marine, Morris, Sophie, Muench, Georg, Murdoch, David R, Mustafa, Sobia, Natalucci, Giancarlo, Neeleman, C, Newall, Karen, Nichols, Samuel, Niederer-Loher, Anita, Niedrist, Tobias, Nijman, Ruud, Nokalna, Ieve, Nordberg, Gudrun, O'Connor, Daniel, Obihara, C C, Oliver, Zoe, Oosthoek, Wilma, Ora, Miguel Sadiki, Osterman, Veronika, Pachot, Alexandre, Pajkrt, D, Pardo-Seco, Jacobo, Pavãre, Jana, Paz, Ivonne Pena, Paulus, Stéphane, Pérez, Belén Mosquera, Persand, Salina, Pfleger, Andreas, Pfurtscheller, Klaus, Philipsen, Ria, Pickering, Alisa, Pierce, Benjamin, Pilch, Heidemarie, Pischedda, Sara, Pölz, Lena, Posfay-Barbe, Klara M, Powell, Oliver, Prunk, Petra, Pučuka, Zanda, Rajic, Glorija, Rashid, Aqeela, Redondo-Collazo, Lorenzo, Reiter, Karl, Relly, Christa, Rhodes, Mathew, Rial, Jose Gómez, Richmond, Vivien, Riedel, Thomas, Rivero Calle, Irene, Roca, Anna, Rödl, Siegfried, Rodríguez, Lidia Piñeiro, Rodríguez-Tenreiro, Carmen, Romaine, Sam, Rowlands, Emily, Rudzate, Aleksandra, Sagmeister, Manfred, Saidykhan, Momodou, Sallas, Antonio, Sarr, Isatou, Schoen, Carola, Schonenberg, D, Schweintzger, Nina, Secka, Fatou, Selecka, Katrīna, Shah, Priyen, Shen, Ching-Fen, Shrestha, Shrijana, Skrabl-Baumgartner, Andrea, Soon, Joshua, Sperl, Matthias, Sprenkeler, Evelien, Spyridis, Nikos, Srovin, Tina Plankar, Stampfer, Laura, Stevens, Molly, Stocker, Martin, Strenger, Volker, Suárez, Carlos Durán, Svile, Dace, Syggelou, Kelly, Tal, Chantal, Tambouratzi, Maria, Tavliavini, Emma, Thakker, Clare, Thomson, Evelyn, Throson, Stephen, Till, Holger, Tramper-Stranders, G A, Trasorras, Cristina Serén, Trobisch, Andreas, Urbãne, Urzula Nora, Usman, Mariama, Valentine, Lucille, Van Aerde, Koen, Van den Berg, J M, Van den Broek, Bryan, Van der Giessen, Ilona, Van der Kuip, M, Van der Velden, Fabian, Van Furth, A M, Van Gool, Alain J, Van Leur, M, van Mierlo, G, Vázquez, Sara Ray, Vermont, Clementien, Vicente, Luisa García, Vincek, Katarina, Vito, Ortensia, Voice, Marie, Wallia, Diane, Walsh, Ben, Wang, Shih-Min, Wedderburn, Catherine, Willems, Esther, Wilson, Clare, Wood, Amanda, Woodsford, Phil, Wyss, Verena, Xagorari, Marietta, Zachariasse, Joany, Zaman, Syed M A, Zurl, Christoph, Zwerenz, Manuela, Jackson, Heather R ^*, Hamilton, Melissa Shea, Fischer, Roman, Thorne, Adam M, Huang, Honglei, Tanck, Michael W, Jansen, Machiel H, Pollard, Andrew J, Tsolia, Maria N, Wright, Victoria J, Coin, Lachlan J M, Casals-Pascual, Climent, Herberg, Jethro A, de Jonge, Marien I, Kuijpers, Taco W

Source: In The Lancet Digital Health November 2023 5(11):e774-e785

Relationship between molecular pathogen detection and clinical disease in febrile children across Europe: a multicentre, prospective observational study

Authors: Shah, Priyen, Voice, Marie, Calvo-Bado, Leonides, Calle, Irene Rivero, Morris, Sophie, Nijman, Ruud, Broderick, Claire, De, Tisham, Eleftheriou, Irini, Galassini, Rachel, Khanijau, Aakash, Kolberg, Laura, Kolnik, Mojca, Rudzate, Aleksandra, Sagmeister, Manfred, Schweintzger, Nina, Secka, Fatou, Thakker, Clare, Van der Velden, Fabian, Vermont, Clementien, Vincek, Katarina, Agyeman, Philipp K.A., Cunnington, Aubrey J., De Groot, Ronald, Emonts, Marieke, Fidler, Katy, Kuijpers, Taco, Mommert-Tripon, Marine, Brengel-Pesce, Karen, Mallet, Francois, Moll, Henriette, Paulus, Stéphane, Pokorn, Marko, Pollard, Andrew, Schlapbach, Luregn J., Shen, Ching-Fen, Tsolia, Maria, Usuf, Effua, Van der Flier, Michiel, Von Both, Ulrich, Yeung, Shunmay, Zavadska, Dace, Zenz, Werner, Wright, Victoria, Carrol, Enitan D., Kaforou, Myrsini, Martinon-Torres, Federico, Fink, Colin, Levin, Michael, Herberg, Jethro, Baumard, Lucas, Bellos, Evangelos, Coin, Lachlan, D'Souza, Giselle, Habgood-Coote, Dominic, Hamilton, Shea, Hoggart, Cllive, Hourmat, Sara, Jackson, Heather, Lin, Naomi, Menikou, Stephanie, Nichols, Samuel, Paz, Ivonne Pena, Powell, Oliver, Vito, Ortensia, Wilson, Clare, Abdulla, Amina, Ali, Ladan, Darnell, Sarah, Jorgensen, Rikke, Maconochie, Ian, Mustafa, Sobia, Persand, Salina, Walsh, Ben, Stevens, Molly, Kim, Nayoung, Kim, Eunjung, Pierce, Benjamin, Dudley, Julia, Richmond, Vivien, Tavliavini, Emma, Liu, Ching-Chuan, Wang, Shih-Min, González, Fernando Álves, Farto, Cristina Balo, Barral-Arca, Ruth, Castro, María Barreiro, Bello, Xabier, Ben García, Mirian, Carnota, Sandra, Cebey-López, Miriam, Curras-Tuala, María José, Suárez, Carlos Durán, Vicente, Luisa García, Gómez-Carballa, Alberto, Rial, Jose Gómez, Iglesias, Pilar Leboráns, Martinón-Torres, Nazareth, Martinón Sánchez, José María, Pérez, Belén Mosquera, Pardo-Seco, Jacobo, Rodríguez, Lidia Piñeiro, Pischedda, Sara, Vázquez, Sara Ray, Rodríguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Ora, Miguel Sadiki, Sallas, Antonio, Fernández, Sonia Serén, Trasorras, Cristina Serén, Iglesias, Marisol Vilas, Balode, Anda, Bãrdzdina, Arta, Deksne, Dãrta, Gardovska, Dace, Grãvele, Dagne, Grope, Ilze, Meiere, Anija, Nokalna, Ieve, Pavãre, Jana, Pučuka, Zanda, Selecka, Katrīna, Svile, Dace, Urbãne, Urzula Nora, Bojang, Kalifa, Zaman, Syed M.A., Anderson, Suzanne, Roca, Anna, Sarr, Isatou, Saidykhan, Momodou, Darboe, Saffiatou, Ceesay, Samba, D'alessandro, Umberto, Borensztajn, Dorine M., Hagedoorn, Nienke N., Tal, Chantal, Zachariasse, Joany, Dik, W., Aebi, Christoph, Berger, Christoph, Wyss, Verena, Usman, Mariama, Giannoni, Eric, Stocker, Martin, Posfay-Barbe, Klara M., Heininger, Ulrich, Bernhard-Stirnemann, Sara, Niederer-Loher, Anita, Kahlert, Christian, Natalucci, Giancarlo, Relly, Christa, Riedel, Thomas, Cocklin, Elizabeth, Jennings, Rebecca, Johnson, Joanne, Leigh, Simon, Newall, Karen, Romaine, Sam, Tambouratzi, Maria, Marmarinos, Antonis, Xagorari, Marietta, Syggelou, Kelly, Spyridis, Nikos, Blackmore, Jennifer, Harrison, Rebekah, Kohlmaier, Benno, Kohlfürst, Daniela S., Zurl, Christoph, Binder, Alexander, Hösele, Susanne, Leitner, Manuel, Pölz, Lena, Rajic, Glorija, Bauchinger, Sebastian, Baumgart, Hinrich, Benesch, Martin, Ceolotto, Astrid, Eber, Ernst, Gallisti, Siegfried, Gores, Gunther, Haidl, Harald, Hauer, Almuthe, Hude, Christa, Keldorfer, Markus, Krenn, Larissa, Pilch, Heidemarie, Pfleger, Andreas, Pfurtscheller, Klaus, Nordberg, Gudrun, Niedrist, Tobias, Rödl, Siegfried, Skrabl-Baumgartner, Andrea, Sperl, Matthias, Stampfer, Laura, Strenger, Volker, Till, Holger, Trobisch, Andreas, Löffler, Sabine, Dewez, Juan Emmanuel, Hibberd, Martin, Bath, David, Miners, Alec, Fitchett, Elizabeth, Wedderburn, Catherine, Meierford, Anne, Leurent, Baptiste, De Jonge, Marien I., van Aerde, Koen, Alkema, Wynand, van den Broek, Bryan, Gloerich, Jolein, Van Gool, Alain J., Henriet, Stefanie, Huijnen, Martijn, Philipsen, Ria, Willems, Esther, Gerrits, G.P.J.M., Van Leur, M., Heidema, J., De Haan, L., Miedema, C.J., Neeleman, C., Obihara, C.C., Tramper-Stranders, G.A., Kandasamy, Rama, Carter, Michael J., O'Connor, Daniel, Bibi, Sagida, Kelly, Dominic F., Gurung, Meeru, Throson, Stephen, Ansari, Imran, Murdoch, David R., Shrestha, Shrijana, Oliver, Zoe, Lim, Emma, Valentine, Lucille, Allen, Karen, Bell, Kathryn, Chan, Adora, Crulley, Stephen, Devine, Kirsty, Fabian, Daniel, King, Sharon, McAlinden, Paul, McDonald, Sam, McDonell, Anne, Pickering, Alisa, Thomson, Evelyn, Wood, Amanda, Wallia, Diane, Woodsford, Phil, Baxter, Frances, Bell, Ashley, Rhodes, Mathew, Agbeko, Rachel, Mackerness, Christine, Baas, Bryan, Kloosterhuis, Lieke, Oosthoek, Wilma, Arif, Tasnim, Bennet, Joshua, Collings, Kalvin, Van der Giessen, Ilona, Martin, Alex, Rashid, Aqeela, Rowlands, Emily, Soon, Joshua, De Vries, Gabriella, van der Velden, Fabian, Martin, Mike, Mistry, Ravi, Zwerenz, Manuela, Buschbeck, Judith, Bidlingmaier, Christoph, Binder, Vera, Danhauser, Katharina, Haas, Nikolaus, Griese, Matthias, Kappler, Matthias, Lurz, Eberhard, Muench, Georg, Reiter, Karl, Schoen, Carola, Pachot, Alexandre, Mommert, Marine, Srovin, Tina Plankar, Bahovec, Natalija, Prunk, Petra, Osterman, Veronika, Avramoska, Tanja, Jongerius, Ilse, van den Berg, J.M., Schonenberg, D., Barendregt, A.M., Pajkrt, D., van der Kuip, M., van Furth, A.M., Sprenkeler, Evelien, Zandstra, Judith, van Mierlo, G., Geissler, J., Rivero-Calle, Irene, Sagmeister, Manfred G., Schweintzger, Nina A., Kuijpers, Taco W., van der Flier, Michiel, von Both, Ulrich

Source: In The Lancet Regional Health - Europe September 2023 32

Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens

Authors: Abdulla, Amina, Aebi, Christoph, van Aerde, Koen, Agbeko, Rachel, Agyeman, Philipp, D’alessandro, Umberto, Ali, Ladan, Alkema, Wynand, Allen, Karen, González, Fernando Álvez, Anderson, Suzanne, Ansari, Imran, Araf, Tasnim, Avramoska, Tanja, Baas, Bryan, Bahovec, Natalija, Farto, Cristina Balo, Balode, Anda, Barendregt, A.M., Barral-Arca, Ruth, Castro, María Barreiro, Bārzdiņa, Arta, Bath, David, Bauchinger, Sebastian, Baumard, Lucas, Baumgart, Hinrich, Baxter, Frances, Bell, Ashley, Bell, Kathryn, Bello, Xabier, Bellos, Evangelos, Benesch, Martin, Ben García, Mirian, Bennet, Joshua, Berger, Christoph, van den Berg, J.M., Bernhard-Stirnemann, Sara, Bibi, Sagida, Bidlingmaier, Christoph, Binder, Alexander, Binder, Vera, Bojang, Kalifa, Borensztajn, Dorine M., von Both, Ulrich, Brengel-Pesce, Karen, van den Broek, Bryan, Buschbeck, Judith, Calvo-Bado, Leo, Carnota, Sandra, Carrol, Enitan D., Carter, Michael J., Cebey-López, Miriam, Ceesay, Samba, Ceolotto, Astrid, Chan, Adora, Cocklin, Elizabeth, Collings, Kalvin, Crulley, Stephen, Cunnington, Aubrey, Curras-Tuala, María José, Danhauser, Katharina, Darboe, Saffiatou, Darnell, Sarah, De, Tisham, Deksne, Dārta, Devine, Kirsty, Dewez, Juan Emmanuel, Dudley, Julia, Suárez, Carlos Durán, Eber, Ernst, Eleftheriou, Irini, Emonts, Marieke, Fabian, Daniel, Feuchtinger, Tobias, Fidler, Katy, Fink, Colin, van der Flier, Michiel, van Furth, A.M., Galassini, Rachel, Gallistl, Siegfried, Vicente, Luisa García, Gardovska, Dace, Geissler, J., Gerrits, G.P.J.M., Giannoni, Eric, van der Giessen, Ilona, Gloerich, Jolein, Gómez-Carballa, Alberto, Rial, Jose Gómez, van Gool, Alain J., Gores, Gunther, Grāvele, Dagne, Griese, Matthias, Grope, Ilze, de Groot, Ronald, Gurung, Meeru, de Haan, L., Haas, Nikolaus, Habgood-Coote, Dominic, Hagedoorn, Nienke N., Haidl, Harald, Hamilton, Shea, Hauer, Almuthe, Heidema, J., Heininger, Ulrich, Henriet, Stefanie, Herberg, Jethro, Hoggart, Clive, Hösele, Susanne, Hourmat, Sara, Hude, Christa, Huijnen, Martijn, Jackson, Heather, Jennings, Rebecca, Johnston, Joanne, de Jonge, Marien I., Jongerius, Ilse, Jorgensen, Rikke, Kaforou, Myrsini, Kahlert, Christian, Kandasamy, Rama, Kappler, Matthias, Keil, Julia, Keldorfer, Markus, Kell, Dominic F., Kim, Eunjung, King, Sharon, Kloosterhuis, Lieke, Kohlfürst, Daniela S., Kohlmaier, Benno, Kolberg, Laura, Kolnik, Mojca, Krenn, Larissa, Kuijpers, Taco, van der Kuip, M., Iglesias, Pilar Leboráns, Leigh, Simon, Leitner, Manuel, van Leur, M., Lim, Emma, Lin, Naomi, Liu, Ching-Chuan, Löffler, Sabine, Lurz, Eberhard, Maconochie, Ian, Mackerness, Christine, Mallet, François, Martinón-Torres, Federico, Marmarinos, Antonis, Martin, Alex, Martin, Mike, Martinón Sánchez, José María, Martinón-Torres, Nazareth, McAlinden, Paul, McDonnell, Anne, McDonald, Sam, Miedema, C.J., Meiere, Anija, Menikou, Stephanie, van Mierlo, G., Miners, Alec, Mistry, Ravi, Moll, Henriëtte A., Mommert, Marine, Pérez, Belén Mosquera, Murdoch, David R., Mustafa, Sobia, Natalucci, Giancarlo, Neeleman, C., Newall, Karen, Nichols, Samuel, Niedrist, Tobias, Niederer-Loher, Anita, Nijman, Ruud, Nokalna, Ieva, Urbāne, Urzula Nora, Nordberg, Gudrun, Obihara, C.C., O'Connor, Daniel, Oosthoek, Wilma, Osterman, Veronika, Pachot, Alexandre, Pajkrt, D., Pardo-Seco, Jacobo, Paulus, Stéphane, Pavāre, Jana, Paz, Ivonne Pena, Persand, Salina, Pfleger, Andreas, Pfurtscheller, Klaus, Philipsen, Ria, Pickering, Ailsa, Pierce, Benjamin, Pilch, Heidemarie, Rodríguez, Lidia Piñeiro, Pischedda, Sara, Srovin, Tina Plankar, Pokorn, Marko, Pollard, Andrew J., Pölz, Lena, Posfay-Barbe, Klara M., Prunk, Petra, Pučuka, Zanda, Rajic, Glorija, Rashid, Aqeela, Redondo-Collazo, Lorenzo, Relly, Christa, Calle, Irene Rivero, Vázquez, Sara Rey, Rhodes, Mathew, Richmond, Vivien, Riedel, Thomas, RocaIsatou Sarr, Anna, Rödl, Siegfried, Rodríguez-Tenreiro, Carmen, Romaine, Sam, Rowlands, Emily, Ora, Miguel Sadiki, Sagmeister, Manfred G., Saidykhan, Momodou, Salas, Antonio, Schlapbach, Luregn J., Schonenberg, D., Secka, Fatou, Selecka, Katrīna, Fernández, Sonia Serén, Trasorras, Cristina Serén, Shah, Priyen, Shen, Ching-Fen, Shrestha, Shrijana, Sidorova, Aleksandra, Skrabl-Baumgartner, Andrea, D’Souza, Giselle, Sperl, Matthias, Sprenkeler, Evelien, Schweintzger, Nina A., Stampfer, Laura, Stevens, Molly, Stocker, Martin, Strenger, Volker, Svile, Dace, Syggelou, Kelly, Tambouratzi, Maria, Tan, Chantal, Tavliavini, Emma, Thomson, Evelyn, Thorson, Stephen, Till, Holger, Tramper-Stranders, G.A., Trobisch, Andreas, Tsolia, Maria, Usuf, Effua, Valentine, Lucille, Vermont, Clementien L., Iglesias, Marisol Vilas, Vincek, Katarina, Voice, Marie, de Vries, Gabriella, Wallia, Diane, Wang, Shih-Min, Willems, Esther, Wilson, Clare, Wood, Amanda, Woodsford, Phil, Wright, Victoria, Xagorari, Marietta, Yeung, Shunmay, Zachariasse, Joany, Zavadska, Dace, Zaman, Syed M.A., Zandstra, Judith, Zenz, Werner, Zurl, Christoph, Zwerenz, Manuela, Suppers, Anouk, van den Heuvel, Lambert P., van de Kar, Nicole, Philipsen, Ria H.L.A., van Dael, Maurice, Wright, Victoria J., Herberg, Jethro A., Torres, Federico Martinon, Levin, Michael, Lefeber, Dirk J., Wessels, Hans J.C.T.

Source: In iScience 18 August 2023 26(8)

Formation of neutrophil extracellular traps requires actin cytoskeleton rearrangements

Authors: Sprenkeler, Evelien G.G. ^*, Tool, Anton T.J., Henriet, Stefanie S.V., van Bruggen, Robin, Kuijpers, Taco W. ^*

Source: In Blood 26 May 2022 139(21):3166-3180

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

Authors: 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, Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology November 2021 148(5):1332-1341

MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization

Authors: Sprenkeler, Evelien G.G. ^{1, 1, 2, *}, Henriet, Stefanie S.V. ^{3, *}, Tool, Anton T.J. ¹, Kreft, Iris C. ⁴, van der Bijl, Ivo ¹, Aarts, Cathelijn E.M. ¹, van Houdt, Michel ¹, Verkuijlen, Paul J.J.H. ¹, van Aerde, Koen ³, Jaspers, Gerald ⁵, van Heijst, Arno ⁶, Koole, Wouter ⁷, Gardeitchik, Thatjana ⁷, Geissler, Judy ¹, de Boer, Martin ¹, Tol, Simon ⁸, Bruggeman, Christine W. ¹, van Alphen, Floris P.J. ⁸, Verhagen, Han J.M.P. ⁹, van den Akker, Emile ⁹, Janssen, Hans ¹⁰, van Bruggen, Robin ¹, van den Berg, Timo K. ^{1, 11}, Liem, Kian D. ⁶, Kuijpers, Taco W. ^{1, 2}

Source: In Blood 11 June 2020 135(24):2171-2181

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

Authors: 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

Source: In The American Journal of Human Genetics 4 April 2024 111(4):791-804

Severe Immune-Related Enteritis after In Utero Exposure to Pembrolizumab.

Authors: Baarslag, Manuel A.¹, Heimovaara, Joosje H.^2,3, Borgers, Jessica S. W.^4,5, van Aerde, Koen J.², Koenen, Hans J. P. M.⁶, Smeets, Ruben L.^6,7, Buitelaar, Pauline L. M.⁸, Pluirn, Dick⁹, Vos, Shoko⁴, Henriet, Stefanie S. V.², de Groot, Jan Willem B.¹⁰, van Grotel, Martine¹¹, Rosing, Hilde⁸, Beilnen, Jos H.^8,12, Huitema, Alwin D. R.^8,9, Haanen, John B. A. G.⁵, Amant, Frédéric³, Gierenz, Nicole¹³

Source: New England Journal of Medicine; 11/9/2023, Vol. 389 Issue 19, p1790-1796, 7p

Chloroquine Modulates the Fungal Immune Response in Phagocytic Cells From Patients With Chronic Granulomatous Disease

Authors: Henriet, Stefanie S. V., Jans, Jop, Simonetti, Elles, Kwon-Chung, Kyung J., Rijs, Antonius J. M. M., Hermans, Peter W. M., Holland, Steve M., de Jonge, Marien I., Warris, Adilia

Source: The Journal of Infectious Diseases, 2013 Jun . 207(12), 1932-1939.

Access URL: http://dx.doi.org/10.1093/infdis/jit103

Aspergillus nidulans and Chronic Granulomatous Disease: A Unique Host-Pathogen Interaction

Authors: Henriet, Stefanie S. V., Verweij, Paul E., Warris, Adilia

Source: The Journal of Infectious Diseases, 2012 Oct 01. 206(7), 1128-1137.

Access URL: http://dx.doi.org/10.1093/infdis/jis473

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Authors: 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.

Source: eLife; 11/4/2022, p1-24, 24p

Endocarditis Caused by Nontypeable Streptococcus pneumoniae.

Authors: Henriet, Stefanie S V¹, Langereis, Jeroen D², Lo, Stephanie W³, Bentley, Stephen³, Mesman, Rob J⁴, Fejzic, Zina⁵, Niftrik, Laura van⁴, Sorge, Nina M van⁶, Wertheim, Heiman F L⁷, Jonge, Marien I de², Cremers, Amelieke J H⁷ amelieke.cremers@radboudumc.nl

Source: Clinical Infectious Diseases. Aug2022, Vol. 75 Issue 4, p719-722. 4p.

Subject Terms: *BLOOD, *ECHOCARDIOGRAPHY, *SEROTYPING, *FEVER, *CELL culture, *SEQUENCE analysis, *BACTERIAL capsules, *STREPTOCOCCAL diseases, *RESPIRATORY infections, *INFECTIVE endocarditis, *DISEASE complications, *CHILDREN

Quality of life in children receiving treatment for Mycobacterium abscessus otomastoiditis.

Authors: Leow, Theresa Y.S., Bekkers, Stijn, Janssen, Arno M., Pegge, Sjoert A.H., Kunst, Henricus P.M., Waterval, Jerome J., Jansen, Thijs T.G., Henriet, Stefanie S.V., van Aerde, Koen J., van Ingen, Jakko, Hol, Myrthe K.S.

Source: Clinical Otolaryngology; Jul2022, Vol. 47 Issue 4, p529-535, 7p

Subject Terms: QUALITY of life, MYCOBACTERIUM, BURULI ulcer, PERIPHERALLY inserted central catheters, OTITIS media

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Authors: Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W.

Source: Frontiers in Immunology; 12/21/2021, Vol. 12, p1-11, 11p

Subject Terms: NUCLEOTIDE sequencing, CHILD patients, COHORT analysis, IMMUNOLOGIC diseases, GENETIC testing, GENETIC disorder diagnosis, MOLECULAR diagnosis

Geographic Terms: NETHERLANDS

Neisseria meningitidis Serogroup Z Meningitis in a Child With Complement C8 Deficiency and Potential Cross Protection of the MenB-4C Vaccine.

Authors: van den Broek, Bryan, Coolen, Jordy P. M., de Jonge, Marien I., de Groot, Ronald, Henriet, Stefanie S. V., Langereis, Jeroen D., van der Flier, Michiel

Source: Pediatric Infectious Disease Journal; Nov2021, Vol. 40 Issue 11, p1019-1022, 4p

First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency.

Authors: Oegema, Sanne¹ (AUTHOR), Henriet, Stefanie S. V.² (AUTHOR), van Aerde, Koen J.² (AUTHOR), Bredius, Robbert G. M.¹ (AUTHOR), Berghuis, Dagmar¹ (AUTHOR) d.berghuis@lumc.nl

Source: Journal of Clinical Immunology. Nov2022, Vol. 42 Issue 8, p1608-1610. 3p.

Subject Terms: *HEMATOPOIETIC stem cell transplantation, *INFORMED consent (Medical law), *CHRONIC wounds & injuries, *CORD blood, *EPILEPSY

Human newborn B cells mount an interferon-α/β receptor-dependent humoral response to respiratory syncytial virus

Authors: Jans, Jop, Pettengill, Matthew, Kim, Dhohyung, van der Made, Cas, de Groot, Ronald, Henriet, Stefanie, de Jonge, Marien I., Ferwerda, Gerben, Levy, Ofer

Source: In The Journal of Allergy and Clinical Immunology June 2017 139(6):1997-2000

Neisseria meningitidisSerogroup Z Meningitis in a Child With Complement C8 Deficiency and Potential Cross Protection of the MenB-4C Vaccine

Authors: van den Broek, Bryan, Coolen, Jordy P. M., de Jonge, Marien I., de Groot, Ronald, Henriet, Stefanie S. V., Langereis, Jeroen D., van der Flier, Michiel

Source: The Pediatric Infectious Disease Journal; November 2021, Vol. 40 Issue: 11 p1019-1022, 4p

Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.

Authors: Langereis, Jeroen D, Molen, Renate G, Kat Angelino, Corrie, Henriet, Stefanie S, Jonge, Marien I, Joosten, Irma, Simons, Annet, Schuurs‐Hoeijmakers, Janneke HM, Deuren, Marcel, Aerde, Koen, Flier, Michiel

Source: Clinical & Translational Immunology; 2021, Vol. 10 Issue 4, p1-11, 11p

Subject Terms: COMPLEMENT activation, BACTERIAL cell surfaces, NEISSERIA meningitidis, BACTERIAL diseases, HAEMOPHILUS influenzae, BACTERIAL meningitis