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189 results on '"Goldacker, Sigune"'

1. Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency.

Author

Kindle, Gerhard, Goldacker, Sigune, von Spee-Mayer, Caroline, Proietti, Michele, Bausch, Birke, Bettinger, Dominik, Schultheiß, Michael, Thimme, Robert, Schuppan, Detlef, Warnatz, Klaus, Globig, Anna-Maria, Strohmeier, Valentina, Surabattula, Rambabu, Leeming, Diana, Karsdal, Morten, and Heeg, Maximilian

Subjects
Common variable immunodeficiency, diagnosis, hepatopathy, nodular regenerative hyperplasia, portal hypertension, Humans, Common Variable Immunodeficiency, Hypertension, Portal, Esophageal and Gastric Varices, Elasticity Imaging Techniques, Liver Cirrhosis, Liver
Abstract

Timely detection of portal hypertension as a manifestation in a subgroup of patients with common variable immunodeficiency (CVID) represents a challenge since it is usually not associated with liver cirrhosis. To identify relevant markers for portal hypertension, we evaluated clinical history, laboratory parameters, and abdominal ultrasound including liver elastography and biomarkers of extracellular matrix formation. Twenty seven (6%) of 479 CVID patients presented with clinically significant portal hypertension as defined by either the presence of esophageal varices or ascites. This manifestation occurred late during the course of the disease (11.8 years after first diagnosis of CVID) and was typically part of a multiorgan disease and associated with a high mortality (11/27 patients died during follow up). The strongest association with portal hypertension was found for splenomegaly with a longitudinal diameter of > 16 cm. Similarly, most patients presented with a liver stiffness measurement (LSM) of above 6.5 kPa, and a LSM above 20 kPa was always indicative of manifest portal hypertension. Additionally, many laboratory parameters including Pro-C4 were significantly altered in patients with portal hypertension without clearly increasing the discriminatory power to detect non-cirrhotic portal hypertension in CVID. Our data suggest that a spleen size above 16 cm and an elevated liver stiffness above 6.5 kPa should prompt further evaluation of portal hypertension and its sequelae, but earlier and better liquid biomarkers of this serious secondary complication in CVID are needed.

Published
2022

3. 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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4. Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing

Author

Rensing-Ehl, Anne, Lorenz, Myriam Ricarda, Führer, Marita, Willenbacher, Wolfgang, Willenbacher, Ella, Sopper, Sieghart, Abinun, Mario, Maccari, Maria Elena, König, Christoph, Haegele, Pauline, Fuchs, Sebastian, Castro, Carla, Kury, Patrick, Pelle, Olivier, Klemann, Christian, Heeg, Maximilian, Thalhammer, Julian, Wegehaupt, Oliver, Fischer, Marco, Goldacker, Sigune, Schulte, Björn, Biskup, Saskia, Chatelain, Philippe, Schuster, Volker, Warnatz, Klaus, Grimbacher, Bodo, Meinhardt, Andrea, Holzinger, Dirk, Oommen, Prasad Thomas, Hinze, Tanja, Hebart, Holger, Seeger, Karlheinz, Lehmberg, Kai, Leahy, Timothy Ronan, Claviez, Alexander, Vieth, Simon, Schilling, Freimut H., Fuchs, Ilka, Groß, Miriam, Rieux-Laucat, Frederic, Magerus, Aude, Speckmann, Carsten, Schwarz, Klaus, and Ehl, Stephan

Published
2024
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5. Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection

Author

Strohmeier, Valentina, Andrieux, Geoffroy, Unger, Susanne, Pascual-Reguant, Anna, Klocperk, Adam, Seidl, Maximilian, Marques, Otavio Cabral, Eckert, Marleen, Gräwe, Katja, Shabani, Michelle, von Spee-Mayer, Caroline, Friedmann, David, Harder, Ina, Gutenberger, Sylvia, Keller, Baerbel, Proietti, Michele, Bulashevska, Alla, Grimbacher, Bodo, Provaznik, Jan, Benes, Vladimir, Goldacker, Sigune, Schell, Christoph, Hauser, Anja E., Boerries, Melanie, Hasselblatt, Peter, and Warnatz, Klaus

Published
2023
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7. The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease

Author

Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne-Sophie, Viallard, Jean-Francois, Tony, Hans-Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., and Warnatz, Klaus

Published
2023
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8. Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency

Author

Globig, Anna-Maria, Strohmeier, Valentina, Surabattula, Rambabu, Leeming, Diana J., Karsdal, Morten A., Heeg, Maximilian, Kindle, Gerhard, Goldacker, Sigune, von Spee-Mayer, Caroline, Proietti, Michele, Bausch, Birke, Bettinger, Dominik, Schultheiß, Michael, Thimme, Robert, Schuppan, Detlef, and Warnatz, Klaus

Published
2022
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12. 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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13. 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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18. The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease

Author

Immuno/reuma onderzoek 1 (Vastert), Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne Sophie, Viallard, Jean Francois, Tony, Hans Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., Warnatz, Klaus, Immuno/reuma onderzoek 1 (Vastert), Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Smits, Bas, Goldacker, Sigune, Seneviratne, Suranjith, Malphettes, Marion, Longhurst, Hilary, Mohamed, Omar E., Witt-Rautenberg, Carla, Leeman, Lucy, Schwaneck, Eva, Raymond, Isabelle, Meghit, Kilifa, Uhlmann, Annette, Winterhalter, Christine, van Montfrans, Joris, Klima, Marion, Workman, Sarita, Fieschi, Claire, Lorenzo, Lorena, Boyle, Sonja, Onyango-Odera, Shamin, Price, Suzanne, Schmalzing, Marc, Aurillac, Valerie, Prasse, Antje, Hartmann, Ieneke, Meerburg, Jennifer J., Kemner-van de Corput, Mariette, Tiddens, Harm, Grimbacher, Bodo, Kelleher, Peter, Patel, Smita Y., Korganow, Anne Sophie, Viallard, Jean Francois, Tony, Hans Peter, Bethune, Claire, Schulze-Koops, Hendrik, Witte, Torsten, Huissoon, Aarnoud, Baxendale, Helen, Grigoriadou, Sofia, Oksenhendler, Eric, Burns, Siobhan O., and Warnatz, Klaus

Published
2023

19. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

Author

Wehr, Claudia, Gennery, Andrew R., Lindemans, Caroline, Schulz, Ansgar, Hoenig, Manfred, Marks, Reinhard, Recher, Mike, Gruhn, Bernd, Holbro, Andreas, Heijnen, Ingmar, Meyer, Deborah, Grigoleit, Goetz, Einsele, Hermann, Baumann, Ulrich, Witte, Thorsten, Sykora, Karl-Walter, Goldacker, Sigune, Regairaz, Lorena, Aksoylar, Serap, Ardeniz, Ömur, Zecca, Marco, Zdziarski, Przemyslaw, Meyts, Isabelle, Matthes-Martin, Susanne, Imai, Kohsuke, Kamae, Chikako, Fielding, Adele, Seneviratne, Suranjith, Mahlaoui, Nizar, Slatter, Mary A., Güngör, Tayfun, Arkwright, Peter D., van Montfrans, Joris, Sullivan, Kathleen E., Grimbacher, Bodo, Cant, Andrew, Peter, Hans-Hartmut, Finke, Juergen, Gaspar, H. Bobby, Warnatz, Klaus, and Rizzi, Marta

Published
2015
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20. Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection

Author

Strohmeier, Valentina, primary, Andrieux, Geoffroy, additional, Unger, Susanne, additional, Pascual-Reguant, Anna, additional, Klocperk, Adam, additional, Seidl, Maximilian, additional, Marques, Otavio Cabral, additional, Eckert, Marleen, additional, Gräwe, Katja, additional, Shabani, Michelle, additional, von Spee-Mayer, Caroline, additional, Friedmann, David, additional, Harder, Ina, additional, Gutenberger, Sylvia, additional, Keller, Baerbel, additional, Proietti, Michele, additional, Bulashevska, Alla, additional, Grimbacher, Bodo, additional, Provaznik, Jan, additional, Benes, Vladimir, additional, Goldacker, Sigune, additional, Schell, Christoph, additional, Hauser, Anja E., additional, Boerries, Melanie, additional, Hasselblatt, Peter, additional, and Warnatz, Klaus, additional

Published
2022
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21. Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

Author

Fliegauf, Manfred, primary, Kinnunen, Matias, additional, Posadas-Cantera, Sara, additional, Camacho-Ordonez, Nadezhda, additional, Abolhassani, Hassan, additional, Alsina, Laia, additional, Atschekzei, Faranaz, additional, Bogaert, Delfien J., additional, Burns, Siobhan O., additional, Church, Joseph A., additional, Dückers, Gregor, additional, Freeman, Alexandra F., additional, Hammarström, Lennart, additional, Hanitsch, Leif Gunnar, additional, Kerre, Tessa, additional, Kobbe, Robin, additional, Sharapova, Svetlana O., additional, Siepermann, Kathrin, additional, Speckmann, Carsten, additional, Steiner, Sophie, additional, Verma, Nisha, additional, Walter, Jolan E., additional, Westermann-Clark, Emma, additional, Goldacker, Sigune, additional, Warnatz, Klaus, additional, Varjosalo, Markku, additional, and Grimbacher, Bodo, additional

Published
2022
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22. The TH1 phenotype of follicular helper T cells indicates an IFN-γ–associated immune dysregulation in patients with CD21low common variable immunodeficiency

Author

Unger, Susanne, Seidl, Maximilian, van Schouwenburg, Pauline, Rakhmanov, Mirzokhid, Bulashevska, Alla, Frede, Natalie, Grimbacher, Bodo, Pfeiffer, Jens, Schrenk, Klaudia, Munoz, Luis, Hanitsch, Leif, Stumpf, Ina, Kaiser, Fabian, Hausmann, Oliver, Kollert, Florian, Goldacker, Sigune, van der Burg, Mirjam, Keller, Baerbel, and Warnatz, Klaus

Published
2018
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23. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Author

Petersen, Britt-Sabina, August, Dietrich, Abt, Renate, Alddafari, Moudjahed, Atarod, Lida, Baris, Safa, Bhavsar, Hemant, Brinkert, Florian, Buchta, Mary, Bulashevska, Alla, Chee, Ronnie, Cordeiro, Ana I., Dara, Naghi, Dückers, Gregor, Elmarsafy, Aisha, Frede, Natalie, Galal, Nermeen, Gerner, Patrick, Glocker, Erik-Oliver, Goldacker, Sigune, Hammermann, Jutta, Hasselblatt, Peter, Havlicekova, Zuzana, Hübscher, Katrin, Jesenak, Milos, Karaca, Neslihan E., Karakoc-Aydiner, Elif, Kharaghani, Mahboubeh M., Kilic, Sara S., Kiykim, Ayca, Klein, Christoph, Klemann, Christian, Kobbe, Robin, Kotlarz, Daniel, Laass, Martin W., Leahy, T. Ronan, Mesdaghi, Mehrnaz, Mitton, Sally, Neves, João F., Öztürk, Birol, Pereira, Luis F., Rohr, Jan, Restrepo, Jessica L. R., Ruzaike, Gunda, Saleh, Nadia, Seneviratne, Suranjith, Senol, Ebru, Speckmann, Carsten, Tegtmeyer, Daniel, Thankam, Paul, van der Werff ten Bosch, Jutte, von Bernuth, Horst, Zeissig, Sebastian, Zeissig, Yvonne, Franke, Andre, and Grimbacher, Bodo

Published
2017
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25. Therapeutic options for CTLA-4 insufficiency

Author

Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, Maria Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns Martin, Sullivan, Kathleen E., Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofia, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo

Abstract

Background: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. Objective: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. Methods: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. Results: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. Conclusion: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.

Published
2022

26. Therapeutic options for CTLA-4 insufficiency

Author

German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., Grimbacher, Bodo, German Research Foundation, Federal Ministry of Education and Research (Germany), University of Zurich, Egg, David [0000-0002-7467-8960], Grimbacher, Bodo [0000-0002-6897-6806], Egg, David, Rump, Ina Caroline, Mitsuiki, Noriko, Rojas-Restrepo, Jessica, Maccari, María Elena, Schwab, Charlotte, Gabrysch, Annemarie, Warnatz, Klaus, Goldacker, Sigune, Patiño, Virginia, Wolff, Daniel, Okada, Satoshi, Hayakawa, Seiichi, Shikama, Yoshiaki, Kanda, Kenji, Imai, Kohsuke, Sotomatsu, Manabu, Kuwashima, Makoto, Kamiya, Takahiro, Morio, Tomohiro, Matsumoto, Kazuaki, Mori, Takeshi, Yoshimoto, Yuri, Dybedal, Ingunn, Kanariou, María, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Lorenz, Hanns-Martin, Sullivan, Kathleen E, Heimall, Jennifer, Moutschen, Michel, Litzman, Jiri, Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Snapper, Scott, Giulino-Roth, Lisa, Svaton, Michael, Platt, Craig D., Hambleton, Sophie, Neth, Olaf, Gosse, Geraldine, Reinsch, Steffen, Holzinger, Dirk, Kim, Yae-Jean, Bakhtiar, Shahrzad, Atschekzei, Faranaz, Schmidt, Reinhold, Sogkas, Georgios, Chandrakasan, Shanmuganathan, Rae, William, Derfalvi, Beata, Marquart, Hanne Vibeke, Ozen, Ahmet, Kiykim, Ayca, Karakoc-Aydiner, Elif, Králíčková, Pavlína, de Bree, Godelieve, Kiritsi, Dimitra, Seidel, Markus G., Kobbe, Robin, Dantzer, Jennifer, Alsina, Laia, Armangue, Thais, Lougaris, Vassilios, Agyeman, Philipp, Nyström, Sofía, Buchbinder, David, Arkwright, Peter D., and Grimbacher, Bodo

Abstract

[Background]: Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness., [Objective]: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level., [Methods]: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated., [Results]: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed., [Conclusion]: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.

Published
2022

27. Therapeutic options for CTLA-4 insufficiency

Author

Egg, David, primary, Rump, Ina Caroline, additional, Mitsuiki, Noriko, additional, Rojas-Restrepo, Jessica, additional, Maccari, Maria-Elena, additional, Schwab, Charlotte, additional, Gabrysch, Annemarie, additional, Warnatz, Klaus, additional, Goldacker, Sigune, additional, Patiño, Virginia, additional, Wolff, Daniel, additional, Okada, Satoshi, additional, Hayakawa, Seiichi, additional, Shikama, Yoshiaki, additional, Kanda, Kenji, additional, Imai, Kohsuke, additional, Sotomatsu, Manabu, additional, Kuwashima, Makoto, additional, Kamiya, Takahiro, additional, Morio, Tomohiro, additional, Matsumoto, Kazuaki, additional, Mori, Takeshi, additional, Yoshimoto, Yuri, additional, Dybedal, Ingunn, additional, Kanariou, Maria, additional, Kucuk, Zeynep Yesim, additional, Chapdelaine, Hugo, additional, Petruzelkova, Lenka, additional, Lorenz, Hanns-Martin, additional, Sullivan, Kathleen E., additional, Heimall, Jennifer, additional, Moutschen, Michel, additional, Litzman, Jiri, additional, Recher, Mike, additional, Albert, Michael H., additional, Hauck, Fabian, additional, Seneviratne, Suranjith, additional, Pachlopnik Schmid, Jana, additional, Kolios, Antonios, additional, Unglik, Gary, additional, Klemann, Christian, additional, Snapper, Scott, additional, Giulino-Roth, Lisa, additional, Svaton, Michael, additional, Platt, Craig D., additional, Hambleton, Sophie, additional, Neth, Olaf, additional, Gosse, Geraldine, additional, Reinsch, Steffen, additional, Holzinger, Dirk, additional, Kim, Yae-Jean, additional, Bakhtiar, Shahrzad, additional, Atschekzei, Faranaz, additional, Schmidt, Reinhold, additional, Sogkas, Georgios, additional, Chandrakasan, Shanmuganathan, additional, Rae, William, additional, Derfalvi, Beata, additional, Marquart, Hanne Vibeke, additional, Ozen, Ahmet, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Králíčková, Pavlína, additional, de Bree, Godelieve, additional, Kiritsi, Dimitra, additional, Seidel, Markus G., additional, Kobbe, Robin, additional, Dantzer, Jennifer, additional, Alsina, Laia, additional, Armangue, Thais, additional, Lougaris, Vassilios, additional, Agyeman, Philipp, additional, Nyström, Sofia, additional, Buchbinder, David, additional, Arkwright, Peter D., additional, and Grimbacher, Bodo, additional

Published
2022
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28. Circulating ${\rm{CD21}}^{\operatorname{low} } $ B Cells in Common Variable Immunodeficiency Resemble Tissue Homing, Innate-Like B Cells

Author

Rakhmanov, Mirzokhid, Keller, Baerbel, Gutenberger, Sylvia, Foerster, Christian, Hoenig, Manfred, Driessen, Gertjan, van der Burg, Mirjam, van Dongen, Jacques J., Wiech, Elisabeth, Visentini, Marcella, Quinti, Isabella, Prasse, Antje, Voelxen, Nadine, Salzer, Ulrich, Goldacker, Sigune, Fisch, Paul, Eibel, Hermann, Schwarz, Klaus, Peter, Hans-Hartmut, Warnatz, Klaus, and Carson, Dennis A.

Published
2009
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30. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional

Published
2021
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34. Bronchoalveolar Lavage Fluid Reflects a TH1-CD21low B-Cell Interaction in CVID-Related Interstitial Lung Disease

Author

Friedmann, David, Unger, Susanne, Keller, Baerbel, Rakhmanov, Mirzokhid, Goldacker, Sigune, Zissel, Gernot, Frye, Björn C., Schupp, Jonas C., Prasse, Antje, Warnatz, Klaus, and Publica

Subjects
interstitial lung disease, B-Lymphocytes, Sarcoidosis, Immunology, common variable immunodeficiency, respiratory system, Th1 Cells, TFH and TPH cells, cytokines, respiratory tract diseases, Humans, Lung Diseases, Interstitial, Bronchoalveolar Lavage Fluid, CD21low B cells, Original Research, Retrospective Studies
Abstract

Background: About 20% of patients with common variable immunodeficiency (CVID) suffer from interstitial lung disease (ILD) as part of a systemic immune dysregulation. Current understanding suggests a role of B cells in the pathogenesis based on histology and increased levels of BAFF and IgM associated with active disease corroborated by several reports which demonstrate the successful use of rituximab in CVID-ILD. It is debated whether histological confirmation by biopsy or even video-assisted thoracoscopy is required and currently not investigated whether less invasive methods like a bronchoalveolar lavage (BAL) might provide an informative diagnostic tool. Objective: To gain insight into potential immune mechanisms underlying granulomatous and lymphocytic interstitial lung disease (GLILD) and to define biomarkers for progressive ILD by characterizing the phenotype of B- and T-cell populations and cytokine profiles in BAL fluid (BALF) of CVID-ILD compared to sarcoidosis patients and healthy donors (HD). Methods: Sixty-four CVID, six sarcoidosis, and 25 HD BALF samples were analyzed by flow cytometric profiling of B- and T-cells and for cytokines by ELISA and Multiplexing LASER Bead technology. Results: Both sarcoidosis and CVID-ILD are characterized by a predominantly T-cell mediated lymphocytosis in the BALF. There is an increase in T follicular helper (TFH)-like memory and decrease of regulatory T cells in CVID-ILD BALF. This TFH-like cell subset is clearly skewed toward TH1 cells in CVID-ILD. In contrast to sarcoidosis, CVID-ILD BALF contains a higher percentage of B cells comprising mostly CD21low B cells, but less class-switched memory B cells. BALF analysis showed increased levels of APRIL, CXCL10, and IL-17. Conclusion: Unlike in sarcoidosis, B cells are expanded in BALF of CVID-ILD patients. This is associated with an expansion of TFH- and TPH-like cells and an increase in APRIL potentially supporting B-cell survival and differentiation and proinflammatory cytokines reflecting not only the previously described TH1 profile seen in CVID patients with secondary immune dysregulation. Thus, the analysis of BALF might be of diagnostic value not only in the diagnosis of CVID-ILD, but also in the evaluation of the activity of the disease and in determining potential treatment targets confirming the prominent role of B-cell targeted strategies.

Published
2021

35. The EUROclass trial: defining subgroups in common variable immunodeficiency

Author

Wehr, Claudia, Kivioja, Teemu, Schmitt, Christian, Ferry, Berne, Witte, Torsten, Eren, Efrem, Vlkova, Marcela, Hernandez, Manuel, Detkova, Drahomira, Bos, Philip R., Poerksen, Gonke, von Bernuth, Horst, Baumann, Ulrich, Goldacker, Sigune, Gutenberger, Sylvia, Schlesier, Michael, Bergeron-van der Cruyssen, Florence, Le Garff, Magali, Debré, Patrice, Jacobs, Roland, Jones, John, Bateman, Elizabeth, Litzman, Jiri, van Hagen, P. Martin, Plebani, Alessandro, Schmidt, Reinhold E., Thon, Vojtech, Quinti, Isabella, Espanol, Teresa, Webster, A. David, Chapel, Helen, Vihinen, Mauno, Oksenhendler, Eric, Peter, Hans Hartmut, and Warnatz, Klaus

Published
2008
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36. Circulating [CD21.sup.low] B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells

Author

Rakhmanov, Mirzokhid, Keller, Baerbel, Gutenberger, Sylvia, Foerster, Christian, Hoenig, Manfred, Driessen, Gertjan, van der Burg, Mirjam, van Dongen, Jacques J., Wiech, Elisabeth, Visentini, Marcella, Quinti, Isabella, Prasse, Antje, Voelxen, Nadine, Salzer, Ulrich, Goldacker, Sigune, Fisch, Paul, Eibel, Hermann, Schwarz, Klaus, Peter, Hans-Hartmut, and Warnatz, Klaus

Subjects
Gene expression -- Research, B cells -- Health aspects, B cells -- Research, Cell differentiation -- Physiological aspects, Cell differentiation -- Research, Immunological deficiency syndromes -- Prevention, Immunological deficiency syndromes -- Research, Science and technology
Abstract

The homeostasis of circulating B cell subsets in the peripheral blood of healthy adults is well regulated, but in disease it can be severely disturbed. Thus, a subgroup of patients with common variable immunodeficiency (CVID) presents with an extraordinary expansion of an unusual B cell population characterized by the low expression of CD21. CD[21.sup.low] B cells are polyclonal, unmutated Ig[M.sup.+]lg[D.sup.+] B cells but carry a highly distinct gene expression profile which differs from conventional naive B cells. Interestingly, while clearly not representing a memory population, they do share several features with the recently defined memory-like tissue, Fc receptor-like 4 positive B cell population in the tonsils of healthy donors. CD[21.sup.low] B cells show signs of previous activation and proliferation in vivo, while exhibiting defective calcium signaling and poor proliferation in response to B cell receptor stimulation. CD[21.sup.low] B cells express decreased amounts of homeostatic but increased levels of inflammatory chemokine receptors. This might explain their preferential homing to peripheral tissues like the bronchoalveolar space of CVID or the synovium of rheumatoid arthritis patients. Therefore, as a result of the close resemblance to the gene expression profile, phenotype, function and preferential tissue homing of murine B1 B cells, we suggest that CD[21.sup.low] B cells represent a human innate-like B cell population. B cell differentiation I CVID

Published
2009

39. A structured patient empowerment programme for primary immunodeficiency significantly improves general and health-related quality of life

Author

Fasshauer, Maria, primary, Schuermann, Gesine, additional, Gebert, Norbert, additional, von Bernuth, Horst, additional, Goldacker, Sigune, additional, Krueger, Renate, additional, Manzey, Petra, additional, Notheis, Gundula, additional, Ritterbusch, Henrike, additional, Schauer, Uwe, additional, Schulze, Ilka, additional, Umlauf, Volker, additional, Widmann, Steffi, additional, and Baumann, Ulrich, additional

Published
2021
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40. Autorinnen und Autoren

Author

Albert, Michael, primary, Albrecht, Katinka, additional, Ballmer-Weber, Barbara, additional, Baum, Christopher, additional, Baumgartner, Marc, additional, Berlit, Peter, additional, Bley, Thorsten, additional, Borradori, Luca, additional, Braun, Jürgen, additional, Brockow, Knut, additional, Bröcker, Verena, additional, Burmester, Gerd R., additional, Büning, Hildegard, additional, Bux, Jürgen, additional, Caliezi, Gion, additional, Chan, Andrew, additional, Distler, Oliver, additional, Ebelt, Henning, additional, Eibel, Hermann, additional, Engelhardt, Karin, additional, Engelhardt, Monika, additional, Feist, Eugen, additional, Feske, Stefan, additional, Fiehn, Christoph, additional, Fingerle, Volker, additional, Fisch, Paul, additional, Fontana, Adriano, additional, Fricker, Michael, additional, Friess, Dorothea, additional, Gadola, Stephan, additional, Gast, Heidemarie, additional, Genth, Ekkehard, additional, Gisler Sáenz, Sandra, additional, Glaser, Cornelia, additional, Gold, Ralf, additional, Goldacker, Sigune, additional, Graninger, Winfried, additional, Gratwohl, Alois, additional, Grimbacher, Bodo, additional, Gromnica-Ihle, Erika, additional, de Groot, Kirsten, additional, Gross, Wolfgang-Ludwig, additional, Hadiprasetya, Gretha, additional, Harr, Thomas, additional, Hausmann, Oliver, additional, Helbling, Arthur, additional, Henneke, Philipp, additional, Hofmann, Silke, additional, Holle, Julia, additional, Holl-Ulrich, Konstanze, additional, Hönig, Manfred, additional, Houet, Leonora, additional, Hunzelmann, Nicolas, additional, Hunziker, Thomas, additional, Huppertz, Hans-Iko, additional, Jäger, Melanie, additional, Jandus, Peter, additional, Kehl, Gabriele, additional, Klein, Christoph, additional, Kötter, Ina, additional, Krause, Andreas, additional, Gert Kuipers, Jens, additional, Lamprecht, Peter, additional, Lange, Uwe, additional, Laudien, Martin, additional, Linke, Reinhold P., additional, Lohmeyer, Jürgen, additional, Lorenz, Birgit, additional, Märker-Hermann, Elisabeth, additional, Maintz, Laura, additional, Maisch, Bernhard, additional, Manger, Bernhard, additional, Manns, Michael P., additional, Menz, Günter, additional, Metzler, Frauke, additional, Möller, Burkhard, additional, Mronga, Silke, additional, Müller, Ulrich, additional, Müller-Ladner, Ulf, additional, Müller-Quernheim, Joachim, additional, Neftel, Klaus, additional, Nigg, Axel, additional, Novak, Natalija, additional, Pankuweit, Sabine, additional, Peter, Hans-Hartmut, additional, Pichler, Christiane, additional, Pichler, Werner, additional, Pipitone, Nicolò, additional, Prasse, Antje, additional, Recher, Mike, additional, Rensing-Ehl, Anne, additional, Rihl, Markus, additional, Rogler, Gerhard, additional, Roll, Petra, additional, Röther, Ekkehard, additional, Salama, Abdulgabar, additional, Salvarani, Carlo, additional, Salzberger, Bernd, additional, Salzer, Ulrich, additional, Schaer, Dominik, additional, Ulrich Scherer, Hans, additional, Schlesier, Michael, additional, Schmitt-Gräff, Annette, additional, Schölmerich, Jürgen, additional, Schrader, Carsten, additional, Schröder, Johann O., additional, Schulze, Ilka, additional, Schulze-Koops, Hendrik, additional, Schwarz, Klaus, additional, Seufert, Jochen, additional, Skerka, Christine, additional, Speckmann, Carsten, additional, Stöckl, Frank, additional, Strassburg, Christian P., additional, Strunk, Johannes, additional, Südkamp, Norbert P., additional, Tarner, Ingo H., additional, Thiel, Jens, additional, Thoden, Jan, additional, Tichelli, André, additional, Tony, Hans-Peter, additional, Treher, Ernst, additional, Vaith, Peter, additional, Hendrik Veelken, J., additional, Venhoff, Nils, additional, Villiger, Peter M., additional, Christian Virchow, J., additional, Vogel, Arndt, additional, Vogelmeier, Claus, additional, Vraetz, Thomas, additional, Wäsch, Ralph, additional, Walker, Ulrich, additional, Warnatz, Klaus, additional, Weiner, Stefan M., additional, Weismüller, Tobias J., additional, Werdan, Karl, additional, Willer, Gundi, additional, Witte, Torsten, additional, Yawalkar, Nikhil, additional, Zipfel, Peter F., additional, and Zissel, Gernot, additional

Published
2012
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42. Analysis of Granulomatous Lymphocytic Interstitial Lung Disease Using Two Scoring Systems for Computed Tomography Scans—A Retrospective Cohort Study

Author

Meerburg, Jennifer J., primary, Hartmann, Ieneke J. C., additional, Goldacker, Sigune, additional, Baumann, Ulrich, additional, Uhlmann, Annette, additional, Andrinopoulou, Eleni-Rosalina, additional, Kemner v/d Corput, Mariette P. C., additional, Warnatz, Klaus, additional, and Tiddens, Harm A. W. M., additional

Published
2020
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43. Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita

Author

Rolles, Benjamin, primary, Bulashevska, Alla, additional, Proietti, Michele, additional, Goldacker, Sigune, additional, Warnatz, Klaus, additional, Camacho-Ordonez, Nadezhda, additional, Vieri, Margherita, additional, Kirschner, Martin, additional, Brümmendorf, Tim H, additional, Grimbacher, Bodo, additional, and Beier, Fabian, additional

Published
2019
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45. Gesundheitskompetenz bei Patienten mit Variablem Immundefekt Syndrom (CVID)

Author

Tinsel, Iris, Bayrhuber, Marianne, Farin-Glattacker, Erik, Kindle, Gerhard, Goldacker, Sigune, Grimbacher, Bodo, Warnatz, Klaus, and Nieters, Alexandra

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Hintergrund: CVID ist die häufigste Diagnose unter den angeborenen Immundefekten, mit einer geschätzten Prävalenz zwischen 1:100.000 und 1:10.000. Die Patienten haben einen Mangel an Immunglobulinen (Ig) und sind hierdurch anfällig für bakterielle Infektionen. Über 30%[zum vollständigen Text gelangen Sie über die oben angegebene URL], 17. Deutscher Kongress für Versorgungsforschung (DKVF)

Published
2018

48. Bronchoalveolar Lavage Fluid Reflects a TH1-CD21low B-Cell Interaction in CVID-Related Interstitial Lung Disease.

Author

Friedmann, David, Unger, Susanne, Keller, Baerbel, Rakhmanov, Mirzokhid, Goldacker, Sigune, Zissel, Gernot, Frye, Björn C., Schupp, Jonas C., Prasse, Antje, and Warnatz, Klaus

Subjects
INTERSTITIAL lung diseases, BRONCHOALVEOLAR lavage, SUPPRESSOR cells, B cells, IMMUNOLOGICAL deficiency syndromes, SARCOIDOSIS
Abstract

Background: About 20% of patients with common variable immunodeficiency (CVID) suffer from interstitial lung disease (ILD) as part of a systemic immune dysregulation. Current understanding suggests a role of B cells in the pathogenesis based on histology and increased levels of BAFF and IgM associated with active disease corroborated by several reports which demonstrate the successful use of rituximab in CVID-ILD. It is debated whether histological confirmation by biopsy or even video-assisted thoracoscopy is required and currently not investigated whether less invasive methods like a bronchoalveolar lavage (BAL) might provide an informative diagnostic tool. Objective: To gain insight into potential immune mechanisms underlying granulomatous and lymphocytic interstitial lung disease (GLILD) and to define biomarkers for progressive ILD by characterizing the phenotype of B- and T-cell populations and cytokine profiles in BAL fluid (BALF) of CVID-ILD compared to sarcoidosis patients and healthy donors (HD). Methods: Sixty-four CVID, six sarcoidosis, and 25 HD BALF samples were analyzed by flow cytometric profiling of B- and T-cells and for cytokines by ELISA and Multiplexing LASER Bead technology. Results: Both sarcoidosis and CVID-ILD are characterized by a predominantly T-cell mediated lymphocytosis in the BALF. There is an increase in T follicular helper (TFH)-like memory and decrease of regulatory T cells in CVID-ILD BALF. This TFH-like cell subset is clearly skewed toward TH1 cells in CVID-ILD. In contrast to sarcoidosis, CVID-ILD BALF contains a higher percentage of B cells comprising mostly CD21low B cells, but less class-switched memory B cells. BALF analysis showed increased levels of APRIL, CXCL10, and IL-17. Conclusion: Unlike in sarcoidosis, B cells are expanded in BALF of CVID-ILD patients. This is associated with an expansion of TFH- and TPH-like cells and an increase in APRIL potentially supporting B-cell survival and differentiation and proinflammatory cytokines reflecting not only the previously described TH1 profile seen in CVID patients with secondary immune dysregulation. Thus, the analysis of BALF might be of diagnostic value not only in the diagnosis of CVID-ILD, but also in the evaluation of the activity of the disease and in determining potential treatment targets confirming the prominent role of B-cell targeted strategies. [ABSTRACT FROM AUTHOR]

Published
2021
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49. Soluble CD21 in sera and synovial fluid of arthritic patients

Author

Grottenthaler, Thomas, Kempis, Johannes, Goldacker, Sigune, Illges, Harald, Grottenthaler, Thomas, Kempis, Johannes, Goldacker, Sigune, and Illges, Harald

Abstract

Soluble CD21 (sCD21) is the ectodomain of the CD21 glycoprotein released by shedding from the cellular membrane. The ectodomain of CD21 is capable of binding complement fragments, Epstein-Barr virus (EBV) and CD23. Functionally sCD21 can activate monocytes and abrogate B-cell/follicular dendritic cell interaction, thereby inhibiting antibody production by antigen primed B cells. Levels of sCD21 vary in several clinical conditions. Here we analyzed sCD21 in synovial fluids and sera in arthritic patients. sCD21 concentrations were consistently lower in synovial fluids compared to paired sera samples from the same patients. In contrast to healthy donors, sCD21 levels are significantly reduced in rheumatoid arthritis patient's sera. Potential causes and consequences of the data are discussed

Published
2018

50. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

Author

Schepp, Johanna, Proietti, Michele, Frede, Natalie, Buchta, Mary, Hübscher, Katrin, Rojas Restrepo, Jessica, Goldacker, Sigune, Warnatz, Klaus, Pachlopnik Schmid, Jana, Duppenthaler, Andrea, Lougaris, Vassilios, Uriarte, Ignacio, Kelly, Susan, Hershfield, Michael, Grimbacher, Bodo, University of Zurich, and Grimbacher, Bodo

Subjects
Adult, Male, Adolescent, Adenosine Deaminase, 2745 Rheumatology, Immunology, 610 Medicine & health, Young Adult, Rheumatology, Immunology and Allergy, Humans, Lymphocyte Count, Vascular Diseases, 2403 Immunology, B-Lymphocytes, Homozygote, Immunologic Deficiency Syndromes, High-Throughput Nucleotide Sequencing, DNA, Sequence Analysis, DNA, Middle Aged, Female, Intercellular Signaling Peptides and Proteins, Mutation, Phenotype, Stroke, 10036 Medical Clinic, 2723 Immunology and Allergy, Sequence Analysis
Abstract

OBJECTIVE We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS We screened for DADA2 in a cohort of 181 patients with antibody deficiency with or without vascular lesions using next-generation sequencing and targeted Sanger sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots. Clinical data and laboratory values were collected in a standardized format. RESULTS Following the diagnosis of 2 siblings in the index family, we identified 9 additional affected patients with compound heterozygous or homozygous CECR1 mutations, containing 6 novel and 4 previously published mutations. The patients' age at evaluation ranged from 13 to 51 years, with a median age of 22 years. Clinically, we saw a broad phenotype, ranging from isolated antibody deficiency to recurrent strokes. All but 1 patient had low numbers of memory B cells. Moreover, B cell function seemed to correlate with inflammation. CONCLUSION Taken together, our findings indicate that DADA2 presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for DADA2. Anti-tumor necrosis factor treatment might improve immunologic features over time and might be considered in patients without vascular manifestations but with elevated inflammation markers. Conservative management has so far proven to be the choice for our less severely affected adolescent and adult DADA2 patients; however, in patients with severe cytopenias and bone marrow failure, hematopoietic stem cell transplantation should be considered.

Published
2016

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