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242 results on '"Bakhtiar, Shahrzad"'

1. The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

Author: Staus, Paulina, Rusch, Stephan, El-Helou, Sabine, Müller, Gabriele, Krausz, Máté, Geisen, Ulf, Caballero-Oteyza, Andrés, Krüger, Renate, Bakhtiar, Shahrzad, Lee-Kirsch, Min Ae, Fasshauer, Maria, Baumann, Ulrich, Hoyer, Bimba Franziska, Farela Neves, João, Borte, Michael, Carrabba, Maria, Hauck, Fabian, Ehl, Stephan, Bader, Peter, von Bernuth, Horst, Atschekzei, Faranaz, Seppänen, Mikko R. J., Warnatz, Klaus, Nieters, Alexandra, Kindle, Gerhard, and Grimbacher, Bodo
Published: 2023
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2. Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

Author: Böhm, Svea, Wustrau, Katharina, Pachlopnik Schmid, Jana, Prader, Seraina, Ahlmann, Martina, Yacobovich, Joanne, Beier, Rita, Speckmann, Carsten, Behnisch, Wolfgang, Ifversen, Marianne, Jordan, Michael, Marsh, Rebecca, Naumann-Bartsch, Nora, Mauz-Körholz, Christine, Hönig, Manfred, Schulz, Ansgar, Malinowska, Iwona, Hines, Melissa, Nichols, Kim E., Gil-Herrera, Juana, Talano, Julie-An, Crooks, Bruce, Formankova, Renata, Jorch, Norbert, Bakhtiar, Shahrzad, Kühnle, Ingrid, Streiter, Monika, Nathrath, Michaela, Russo, Alexandra, Dürken, Matthias, Lang, Peter, Lindemans, Caroline, Henter, Jan-Inge, Lehmberg, Kai, and Ehl, Stephan
Published: 2024
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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. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author: Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, and Speckmann, Carsten
Published: 2024
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5. Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Author: Speckmann, Carsten, Nennstiel, Uta, Hönig, Manfred, Albert, Michael H., Ghosh, Sujal, Schuetz, Catharina, Brockow, Inken, Hörster, Friederike, Niehues, Tim, Ehl, Stephan, Wahn, Volker, Borte, Stephan, Lehmberg, Kai, Baumann, Ulrich, Beier, Rita, Krüger, Renate, Bakhtiar, Shahrzad, Kuehl, Joern-Sven, Klemann, Christian, Kontny, Udo, Holzer, Ursula, Meinhardt, Andrea, Morbach, Henner, Naumann-Bartsch, Nora, Rothoeft, Tobias, Kreins, Alexandra Y., Davies, E. Graham, Schneider, Dominik T., Bernuth, Horst v., Klingebiel, Thomas, Hoffmann, Georg F., Schulz, Ansgar, and Hauck, Fabian
Published: 2023
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6. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author: Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan
Published: 2023
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7. CD19 CAR T cells are an effective therapy for posttransplant relapse in patients with B-lineage ALL: real-world data from Germany

Author: Bader, Peter, Rossig, Claudia, Hutter, Martin, Ayuk, Francis Ayuketang, Baldus, Claudia D., Bücklein, Veit L., Bonig, Halvard, Cario, Gunnar, Einsele, Hermann, Holtick, Udo, Koenecke, Christian, Bakhtiar, Shahrzad, Künkele, Annette, Meisel, Roland, Müller, Fabian, Müller, Ingo, Penack, Olaf, Rettinger, Eva, Sauer, Martin G., Schlegel, Paul-Gerhardt, Soerensen, Jan, von Stackelberg, Arend, Strahm, Brigitte, Hauer, Julia, Feuchtinger, Tobias, and Jarisch, Andrea
Published: 2023
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8. Abatacept treatment in LRBA deficient patients results in an increase in circulating FoxP3+ Helios + natural Treg

Author: Donhauser, Sabine, primary, Salzmann-Manrique, Emilia, additional, Schubert, Ralf, additional, Huenecke, Sabine, additional, and Bakhtiar, Shahrzad, additional
Published: 2024
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9. Endosomal LRBA regulates the endo-lysosomal pathway

Author: Szentgyörgyi, Viktória, primary, Lueck, Leon Maximilian, additional, Overwijn, Daan, additional, Zoeller, Nadia, additional, Hondele, Maria, additional, Spang, Anne, additional, and Bakhtiar, Shahrzad, additional
Published: 2024
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10. 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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11. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III

Author: Bakhtiar, Shahrzad, Salzmann-Manrique, Emilia, Blok, Henric-Jan, Eikema, Dirk-Jan, Hazelaar, Sheree, Ayas, Mouhab, Toren, Amos, Goldstein, Gal, Moshous, Despina, Locatelli, Franco, Merli, Pietro, Michel, Gerard, Öztürk, Gülyüz, Schulz, Ansgar, Heilmann, Carsten, Ifversen, Marianne, Wynn, Rob F., Aleinikova, Olga, Bertrand, Yves, Tbakhi, Abdelghani, Veys, Paul, Karakukcu, Musa, Kupesiz, Alphan, Ghavamzadeh, Ardeshir, Handgretinger, Rupert, Unal, Emel, Perez-Martinez, Antonio, Gokce, Muge, Porta, Fulvio, Aksu, Tekin, Karasu, Gülsün, Badell, Isabel, Ljungman, Per, Skorobogatova, Elena, Yesilipek, Akif, Zuckerman, Tsila, Bredius, Robbert R.G., Stepensky, Polina, Shadur, Bella, Slatter, Mary, Gennery, Andrew R., Albert, Michael H., Bader, Peter, and Lankester, Arjan
Published: 2021
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12. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author: PMC Medisch specialisten, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, Speckmann, Carsten, PMC Medisch specialisten, Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P., Cagdas, Deniz, Castelle, Martin, Chan, Alice Y., Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R., Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G., Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A., Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C., Burns, Siobhan, Seppänen, Mikko R.J., Neth, Olaf, Albert, Michael H., Ehl, Stephan, Neven, Bénédicte, and Speckmann, Carsten
Published: 2024

13. Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study

Author: Wölke, Sandra, Donath, Helena, Bakhtiar, Shahrzad, Trischler, Jordis, Schubert, Ralf, and Zielen, Stefan
Published: 2020
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14. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Author: Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., and Seidel, Markus G.
Published: 2020
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15. Survival in primary hemophagocytic lymphohistiocytosis 2016-2021: etoposide is better than its reputation

Author: Böhm, Svea, primary, Wustrau, Katharina, additional, Pachlopnik Schmid, Jana, additional, Prader, Seraina, additional, Ahlman, Martina, additional, Yacobovich, Joanne, additional, Beier, Rita, additional, Speckmann, Carsten, additional, Behnisch, Wolfgang, additional, Ifversen, Marianne, additional, Jordan, Michael B., additional, Marsh, Rebecca A, additional, Naumann-Bartsch, Nora, additional, Mauz-Koerholz, Christine, additional, Honig, Manfred, additional, Schulz, Ansgar S, additional, Malinowska, Iwona, additional, Hines, Melissa Ruth, additional, Nichols, Kim E, additional, Gil-Herrera, Juana, additional, Talano, Julie-An, additional, Crooks, Bruce, additional, Formankova, Renata, additional, Jorch, Norbert, additional, Bakhtiar, Shahrzad, additional, Kühnle, Ingrid, additional, Streiter, Monika, additional, Nathrath, Michaela, additional, Russo, Alexandra, additional, Duerken, Matthias, additional, Lang, Peter, additional, Lindemans, Caroline A., additional, Henter, Jan-Inge, additional, Lehmberg, Kai, additional, and Ehl, Stephan, additional
Published: 2023
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16. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Author: Fischer, Marco, primary, Olbrich, Peter, additional, Hadjadj, Jérôme, additional, Aumann, Volker, additional, Bakhtiar, Shahrzad, additional, Barlogis, Vincent, additional, von Bismarck, Philipp, additional, Bloomfield, Markéta, additional, Booth, Claire, additional, Buddingh, Emmeline P., additional, Cagdas, Deniz, additional, Castelle, Martin, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Chetty, Kritika, additional, Cougoul, Pierre, additional, Crickx, Etienne, additional, Dara, Jasmeen, additional, Deyà-Martínez, Angela, additional, Farmand, Susan, additional, Formankova, Renata, additional, Gennery, Andrew R., additional, Gonzalez-Granado, Luis Ignacio, additional, Hagin, David, additional, Hanitsch, Leif Gunnar, additional, Hanzlikovà, Jana, additional, Hauck, Fabian, additional, Ivorra-Cortés, José, additional, Kisand, Kai, additional, Kiykim, Ayca, additional, Körholz, Julia, additional, Leahy, Timothy Ronan, additional, van Montfrans, Joris, additional, Nademi, Zohreh, additional, Nelken, Brigitte, additional, Parikh, Suhag, additional, Plado, Silvi, additional, Ramakers, Jan, additional, Redlich, Antje, additional, Rieux-Laucat, Frédéric, additional, Rivière, Jacques G., additional, Rodina, Yulia, additional, Júnior, Pérsio Roxo, additional, Salou, Sarah, additional, Schuetz, Catharina, additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Touzot, Fabien, additional, Unal, Ekrem, additional, Lankester, Arjan C., additional, Burns, Siobhan, additional, Seppänen, Mikko R.J., additional, Neth, Olaf, additional, Albert, Michael H., additional, Ehl, Stephan, additional, Neven, Bénédicte, additional, and Speckmann, Carsten, additional
Published: 2023
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17. Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API* Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) Arbeitsgemeinschaft Pädiatrische Immunologie

Author: Shai, Sonu, Perez-Becker, Ruy, Andres, Oliver, Bakhtiar, Shahrzad, Bauman, Ulrich, von Bernuth, Horst, Classen, Carl-Friedrich, Dückers, Gregor, El-Helou, Sabine M., Gangfuß, Andrea, Ghosh, Sujal, Grimbacher, Bodo, Hauck, Fabian, Hoenig, Manfred, Husain, Ralf A., Kindle, Gerhard, Kipfmueller, Florian, Klemann, Christian, Krüger, Renate, Lainka, Elke, Lehmberg, Kai, Lohrmann, Florens, Morbach, Henner, Naumann-Bartsch, Nora, Oommen, Prasad Thomas, Schulz, Ansgar, Seidemann, Kathrin, Speckmann, Carsten, Sykora, Karl-Walter, von Kries, Rüdiger, and Niehues, Tim
Published: 2020
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18. Supportive care during pediatric hematopoietic stem cell transplantation: beyond infectious diseases. A report from workshops on supportive care of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author: Nava, Tiago, Ansari, Marc, Dalle, Jean-Hugues, de Heredia, Christina Diaz, Güngör, Tayfun, Trigoso, Eugenia, Falkenberg, Ulrike, Bertaina, Alice, Gibson, Brenda, Jarisch, Andrea, Balduzzi, Adriana, Boenig, Halvard, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Buechner, Jochen, Kalwak, Krzysztof, Lawitschka, Anita, Yesilipek, Akif, Lucchini, Giovanna, Peters, Christina, Turkiewicz, Dominik, Niinimäki, Riitta, Diesch, Tamara, Lehrnbecher, Thomas, Sedlacek, Petr, Hutt, Daphna, Dalissier, Arnaud, Wachowiak, Jacek, Yaniv, Isaac, Stein, Jerry, Yalçin, Koray, Sisinni, Luisa, Deiana, Marco, Ifversen, Marianne, Kuhlen, Michaela, Meisel, Roland, Bakhtiar, Shahrzad, Cesaro, Simone, Willasch, Andre, Corbacioglu, Selim, and Bader, Peter
Published: 2020
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19. Clearance of Hematologic Malignancies by Allogeneic Cytokine-Induced Killer Cell or Donor Lymphocyte Infusions

Author: Merker, Michael, Salzmann-Manrique, Emilia, Katzki, Verena, Huenecke, Sabine, Bremm, Melanie, Bakhtiar, Shahrzad, Willasch, Andre, Jarisch, Andrea, Soerensen, Jan, Schulz, Ansgar, Meisel, Roland, Bug, Gesine, Bonig, Halvard, Klingebiel, Thomas, Bader, Peter, and Rettinger, Eva
Published: 2019
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20. Peripheral polyneuropathy in children and young adults with ataxia–telangiectasia

Author: Theis, Marius, primary, Donath, Helena, additional, Woelke, Sandra, additional, Bakhtiar, Shahrzad, additional, Salzmann‐Manrique, Emilia, additional, Zielen, Stefan, additional, and Kieslich, Matthias, additional
Published: 2023
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21. Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

Author: Buchbinder, David, Hauck, Fabian, Albert, Michael H., Rack, Anita, Bakhtiar, Shahrzad, Shcherbina, Anna, Deripapa, Elena, Sullivan, Kathleen E., Perelygina, Ludmila, Eloit, Marc, Neven, Bénédicte, Pérot, Philippe, Moshous, Despina, Suarez, Félipe, Bodemer, Christine, Bonilla, Francisco A., Vaz, Louise E., Krol, Alfons L., Klein, Christoph, Seppanen, Mikko, Nugent, Diane J., Singh, Jasjit, and Ochs, Hans D.
Published: 2019
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22. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author: Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional
Published: 2023
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23. Pre-Emptive Immunotherapy for Clearance of Molecular Disease in Childhood Acute Lymphoblastic Leukemia after Transplantation

Author: Rettinger, Eva, Merker, Michael, Salzmann-Manrique, Emilia, Kreyenberg, Hermann, Krenn, Thomas, Dürken, Matthias, Faber, Jörg, Huenecke, Sabine, Cappel, Claudia, Bremm, Melanie, Willasch, Andre, Bakhtiar, Shahrzad, Jarisch, Andrea, Soerensen, Jan, Klingebiel, Thomas, and Bader, Peter
Published: 2017
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24. Effective treatment of steroid and therapy-refractory acute graft-versus-host disease with a novel mesenchymal stromal cell product (MSC-FFM)

Author: Bader, Peter, Kuçi, Zyrafete, Bakhtiar, Shahrzad, Basu, Oliver, Bug, Gesine, Dennis, Michael, Greil, Johann, Barta, Aniko, Kállay, Krisztián M., Lang, Peter, Lucchini, Giovanna, Pol, Raj, Schulz, Ansgar, Sykora, Karl-Walter, von Luettichau, Irene, Herter-Sprie, Grit, Uddin, Mohammad Ashab, Jenkin, Phil, Alsultan, Abdulrahman, Buechner, Jochen, Stein, Jerry, Kelemen, Agnes, Jarisch, Andrea, Soerensen, Jan, Salzmann-Manrique, Emilia, Hutter, Martin, Schäfer, Richard, Seifried, Erhard, Klingebiel, Thomas, Bonig, Halvard, and Kuçi, Selim
Published: 2018
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25. Donor‐type red blood cell transfusion to deplete isoagglutinins prior to allogeneic stem cell transplantation from ABO major incompatible bone marrow donors

Author: Jarisch, Andrea, primary, Salzmann‐Manrique, Emilia, additional, Soerensen, Jan, additional, Sach, Gudrun, additional, Rettinger, Eva, additional, Willasch, Andre, additional, Bakhtiar, Shahrzad, additional, Klarmann, Dieter, additional, Bräuninger, Susanne, additional, Moser, Laura, additional, Fekadu, Julia, additional, Hutter, Martin, additional, Klingebiel, Thomas, additional, Klusmann, Jan‐Henning, additional, Bader, Peter, additional, and Bonig, Halvard, additional
Published: 2023
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26. Dysregulated B cell function in Ataxia-telangiectasia patients with IgA deficiency

Author: Dücker, Ruth Pia, additional, Röhrich, Hanna, additional, Gronau, Lucia, additional, Donath, Helena, additional, Bakhtiar, Shahrzad, additional, Zielen, Stefan, additional, and Schubert, Ralf, additional
Published: 2023
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27. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Author: Gámez-Díaz, Laura, August, Dietrich, Stepensky, Polina, Revel-Vilk, Shoshana, Seidel, Markus G., Noriko, Mitsuiki, Morio, Tomohiro, Worth, Austen J.J., Blessing, Jacob, Van de Veerdonk, Frank, Feuchtinger, Tobias, Kanariou, Maria, Schmitt-Graeff, Annette, Jung, Sophie, Seneviratne, Suranjith, Burns, Siobhan, Belohradsky, Bernd H., Rezaei, Nima, Bakhtiar, Shahrzad, Speckmann, Carsten, Jordan, Michael, and Grimbacher, Bodo
Published: 2016
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28. Correction: Supportive care during pediatric hematopoietic stem cell transplantation: beyond infectious diseases. A report from workshops on supportive care of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author: Nava, Tiago, Ansari, Marc, Dalle, Jean-Hugues, de Heredia, Christina Diaz, Güngör, Tayfun, Trigoso, Eugenia, Falkenberg, Ulrike, Bertaina, Alice, Gibson, Brenda, Jarisch, Andrea, Balduzzi, Adriana, Boenig, Halvard, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Buechner, Jochen, Kalwak, Krzysztof, Lawitschka, Anita, Yesilipek, Akif, Lucchini, Giovanna, Peters, Christina, Turkiewicz, Dominik, Niinimäki, Riitta, Diesch, Tamara, Lehrnbecher, Thomas, Sedlacek, Petr, Hutt, Daphna, Dalissier, Arnaud, Wachowiak, Jacek, Yaniv, Isaac, Stein, Jerry, Yalçin, Koray, Sisinni, Luisa, Deiana, Marco, Ifversen, Marianne, Kuhlen, Michaela, Meisel, Roland, Bakhtiar, Shahrzad, Cesaro, Simone, Willasch, Andre, Corbacioglu, Selim, and Bader, Peter
Published: 2020
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29. Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation

Author: Moser, Laura M., primary, Fekadu, Julia, additional, Willasch, André, additional, Rettinger, Eva, additional, Sörensen, Jan, additional, Jarisch, Andrea, additional, Kirwil, Marta, additional, Lieb, Adrian, additional, Holzinger, Dirk, additional, Calaminus, Gabriele, additional, Bader, Peter, additional, and Bakhtiar, Shahrzad, additional
Published: 2022
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30. Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation

Author: Bakhtiar, Shahrzad, primary, Kaffenberger, Celia, additional, Salzmann-Manrique, Emilia, additional, Donhauser, Sabine, additional, Lueck, Leon, additional, Karaca, Neslihan Edeer, additional, Gonzalez-Granado, Luis I., additional, Hazar, Esra, additional, Keles, Sevgi, additional, Seidel, Markus G., additional, Fekadu, Julia, additional, Königs, Christoph, additional, Schubert, Ralf, additional, Bader, Peter, additional, and Huenecke, Sabine, additional
Published: 2022
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31. Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author: Ogishi, Masato, primary, Arias, Andrés Augusto, additional, Yang, Rui, additional, Han, Ji Eun, additional, Zhang, Peng, additional, Rinchai, Darawan, additional, Halpern, Joshua, additional, Mulwa, Jeanette, additional, Keating, Narelle, additional, Chrabieh, Maya, additional, Lainé, Candice, additional, Seeleuthner, Yoann, additional, Ramírez-Alejo, Noé, additional, Nekooie-Marnany, Nioosha, additional, Guennoun, Andrea, additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Kilic, Sara S., additional, Minegishi, Yoshiyuki, additional, Ehl, Stephan, additional, Kaiser-Labusch, Petra, additional, Kendir-Demirkol, Yasemin, additional, Rozenberg, Flore, additional, Errami, Abderrahmane, additional, Zhang, Shen-Ying, additional, Zhang, Qian, additional, Bohlen, Jonathan, additional, Philippot, Quentin, additional, Puel, Anne, additional, Jouanguy, Emmanuelle, additional, Pourmoghaddas, Zahra, additional, Bakhtiar, Shahrzad, additional, Willasch, Andre M., additional, Horneff, Gerd, additional, Llanora, Genevieve, additional, Shek, Lynette P., additional, Chai, Louis Y.A., additional, Tay, Sen Hee, additional, Rahimi, Hamid H., additional, Mahdaviani, Seyed Alireza, additional, Nepesov, Serdar, additional, Bousfiha, Aziz A., additional, Erdeniz, Emine Hafize, additional, Karbuz, Adem, additional, Marr, Nico, additional, Navarrete, Carmen, additional, Adeli, Mehdi, additional, Hammarstrom, Lennart, additional, Abolhassani, Hassan, additional, Parvaneh, Nima, additional, Al Muhsen, Saleh, additional, Alosaimi, Mohammed F., additional, Alsohime, Fahad, additional, Nourizadeh, Maryam, additional, Moin, Mostafa, additional, Arnaout, Rand, additional, Alshareef, Saad, additional, El-Baghdadi, Jamila, additional, Genel, Ferah, additional, Sherkat, Roya, additional, Kiykim, Ayça, additional, Yücel, Esra, additional, Keles, Sevgi, additional, Bustamante, Jacinta, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, and Boisson-Dupuis, Stéphanie, additional
Published: 2022
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32. Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author: Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, and Boisson-Dupuis, Stephanie
Abstract: Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-gamma is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.
Published: 2022

33. 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

34. 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

35. Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Author: Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan, Haimel, Matthias, Pazmandi, Julia, Heredia, Raúl Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A.A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, and Boztug, Kaan
Abstract: Background: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. Objectives: We sought to systematically review available terms in HPO for the depiction of IEIs, to expand HPO, yielding more comprehensive sets of terms, and to reannotate IEIs with HPO terms to provide accurate, standardized phenotypic descriptions. Methods: We initiated a collaboration involving expert clinicians, geneticists, researchers working on IEIs, and bioinformaticians. Multiple branches of the HPO tree were restructured and extended on the basis of expert review. Our ontology-guided machine learning coupled with a 2-tier expert review was applied to reannotate defined subgroups of IEIs. Results: We revised and expanded 4 main branches of the HPO tree. Here, we reannotated 73 diseases from 4 International Union of Immunological Societies–defined IEI disease subgroups with HPO terms. We achieved a 4.7-fold increase in the number of phenotypic terms per disease. Given the new HPO annotations, we demonstrated improved ability to computationally match selected IEI cases to their known diagnosis, and improved phenotype-driven disease classification. Conclusions: Our targeted expansion and reannotation presents enhanced precision of disease annotation, will enable superior HPO-based IEI characterization, and hence benefit both IEI diagnostic and research activities.
Published: 2022

36. Understanding the role of LFA-1 in leukocyte adhesion deficiency Type I (LAD I): moving towards inflammation?

Author: Fekadu, Julia Hanna, Modlich, Ute, Bader, Peter, Bakhtiar, Shahrzad, Fekadu, Julia Hanna, Modlich, Ute, Bader, Peter, and Bakhtiar, Shahrzad
Abstract: LFA-1 (Lymphocyte function-associated antigen-1) is a heterodimeric integrin (CD11a/CD18) present on the surface of all leukocytes; it is essential for leukocyte recruitment to the site of tissue inflammation, but also for other immunological processes such as T cell activation and formation of the immunological synapse. Absent or dysfunctional expression of LFA-1, caused by mutations in the ITGB2 (integrin subunit beta 2) gene, results in a rare immunodeficiency syndrome known as Leukocyte adhesion deficiency type I (LAD I). Patients suffering from severe LAD I present with recurrent infections of the skin and mucosa, as well as inflammatory symptoms complicating the clinical course of the disease before and after allogeneic hematopoietic stem cell transplantation (alloHSCT); alloHSCT is currently the only established curative treatment option. With this review, we aim to provide an overview of the intrinsic role of inflammation in LAD I.
Published: 2022

37. Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.

Author: Moser, Laura M., Fekadu, Julia, Willasch, André, Rettinger, Eva, Sörensen, Jan, Jarisch, Andrea, Kirwil, Marta, Lieb, Adrian, Holzinger, Dirk, Calaminus, Gabriele, Bader, Peter, and Bakhtiar, Shahrzad
Subjects: INFLAMMATORY bowel diseases, STEM cell transplantation, GUANINE nucleotide exchange factors, HEMATOPOIETIC stem cell transplantation, GRAFT versus host disease, FAILURE to thrive syndrome
Abstract: Summary: Patients with inborn errors of immunity (IEI) can suffer from treatment‐refractory inflammatory bowel disease (IBD) causing failure to thrive and consequences of long‐term multiple immunosuppressive treatments. Allogeneic haematopoietic stem cell transplantation (alloHSCT) can serve as a curative treatment option. In this single‐centre retrospective cohort study we report on 11 paediatric and young adult IEI patients with IBD and failure to thrive, who had exhausted symptomatic treatment options and received alloHSCT. The cohort included chronic granulomatous disease (CGD), lipopolysaccharide‐responsive and beige‐like anchor protein (LRBA) deficiency, STAT3 gain‐of‐function (GOF), Wiskott–Aldrich syndrome (WAS), dedicator of cytokinesis 8 (DOCK8) deficiency and one patient without genetic diagnosis. All patients achieved stable engraftment and immune reconstitution, and gastrointestinal symptoms were resolved after alloHSCT. The overall survival was 11/11 over a median follow‐up of 34.7 months. Graft‐versus‐host disease (GVHD) was limited to grade I–II acute GVHD (n = 5), one case of grade IV acute GVHD and one case of limited chronic GVHD. Since treatment recommendations are limited, this work provides a centre‐specific approach to treatment prior to transplant as well as conditioning in IEI patients with severe IBD. [ABSTRACT FROM AUTHOR]
Published: 2023
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38. Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

Author: Seidel, Markus G., Böhm, Katrin, Dogu, Figen, Worth, Austen, Thrasher, Adrian, Florkin, Benoit, İkincioğulları, Aydan, Peters, Anke, Bakhtiar, Shahrzad, Meeths, Marie, Stepensky, Polina, Meyts, Isabelle, Sharapova, Svetlana O., Gámez-Díaz, Laura, Hammarström, Lennart, Ehl, Stephan, Grimbacher, Bodo, and Gennery, Andrew R.
Published: 2018
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39. Bronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis‐related small airway dysfunction

Author: Zissler, Ulrich M., primary, Thron, Aljoscha, additional, Eckrich, Jonas, additional, Bakhtiar, Shahrzad, additional, Schubert, Ralf, additional, and Zielen, Stefan, additional
Published: 2022
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40. Understanding the Role of LFA-1 in Leukocyte Adhesion Deficiency Type I (LAD I): Moving towards Inflammation?

Author: Fekadu, Julia, primary, Modlich, Ute, additional, Bader, Peter, additional, and Bakhtiar, Shahrzad, additional
Published: 2022
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41. 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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42. Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Author: Haimel, Matthias, primary, Pazmandi, Julia, additional, Heredia, Raúl Jiménez, additional, Dmytrus, Jasmin, additional, Bal, Sevgi Köstel, additional, Zoghi, Samaneh, additional, van Daele, Paul, additional, Briggs, Tracy A., additional, Wouters, Carine, additional, Bader-Meunier, Brigitte, additional, Aeschlimann, Florence A., additional, Caorsi, Roberta, additional, Eleftheriou, Despina, additional, Hoppenreijs, Esther, additional, Salzer, Elisabeth, additional, Bakhtiar, Shahrzad, additional, Derfalvi, Beata, additional, Saettini, Francesco, additional, Kusters, Maaike A.A., additional, Elfeky, Reem, additional, Trück, Johannes, additional, Rivière, Jacques G., additional, van der Burg, Mirjam, additional, Gattorno, Marco, additional, Seidel, Markus G., additional, Burns, Siobhan, additional, Warnatz, Klaus, additional, Hauck, Fabian, additional, Brogan, Paul, additional, Gilmour, Kimberly C., additional, Schuetz, Catharina, additional, Simon, Anna, additional, Bock, Christoph, additional, Hambleton, Sophie, additional, de Vries, Esther, additional, Robinson, Peter N., additional, van Gijn, Marielle, additional, and Boztug, Kaan, additional
Published: 2022
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43. The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study

Author: Bakhtiar, Shahrzad, Salzmann-Manrique, Emilia, Donath, Helena, Wölke, Sandra, Dücker, Ruth Pia, Fritzemeyer, Stefanie, Schubert, Ralf, Hünecke, Sabine, Kieslich, Matthias, Klingebiel, Thomas, Bader, Peter, and Zielen, Stefan
Subjects: ddc:610
Abstract: Ataxia-telangiectasia (A-T) is a hereditary immune system disorder with neurodegeneration. Its first neurologic symptoms include ataxic gait in early childhood, with slowly progressive cerebellar ataxia, oculomotor apraxia, oculocutaneous telangiectasia, and progressive muscle weakness. Neonatal screening for severe T-cell deficiency was recently found to diagnose A-T patients with a significantly reduced naïve T-cell pool. Our study includes 69 A-T patients between 8 January 2002 and 1 December 2019. Nineteen cases of cancer were diagnosed in 17 patients (25%), with a median overall survival [OS; 95% cumulative indcidence (CI)] of 26·9 years for the entire cohort. The 15-year OS of 82·5% (72–95%) was significantly decreased among A-T patients with malignancies, who had a median OS of 2·11 years, with a two-year-estimated OS of 50·7% (31–82%). Haematological malignancies were the major causes of death within the initial years of life with a 15 times increased risk for death [HR (95% CI): 6·9 (3·1–15.2), P < 0·001] upon malignancy diagnosis. Male patients with A-T are at a higher cancer risk than their female counterparts. This manuscript highlights the need for cancer surveillance and prevention, as well as optimal treatment in this cohort.
Published: 2021

44. The incidence and type of cancer in patients with ataxia‐telangiectasia via a retrospective single‐centre study

Author: Bakhtiar, Shahrzad, primary, Salzmann‐Manrique, Emilia, additional, Donath, Helena, additional, Woelke, Sandra, additional, Duecker, Ruth P., additional, Fritzemeyer, Stefanie, additional, Schubert, Ralf, additional, Huenecke, Sabine, additional, Kieslich, Matthias, additional, Klingebiel, Thomas, additional, Bader, Peter, additional, and Zielen, Stefan, additional
Published: 2021
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45. Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn

Author: Miladinovic, Milica, Wittekindt, Boris, Fischer, Sebastian, Gradhand, Elise, Kunzmann, Steffen, Zimmermann, Stefanie Y., Bakhtiar, Shahrzad, Klingebiel, Thomas, Schlösser, Rolf, and Lehrnbecher, Thomas
Subjects: lcsh:Immunologic diseases. Allergy, congenital, hereditary, and neonatal diseases and abnormalities, Biopsy, Immunology, Infant, Newborn, early onset, Lymphadenopathy, Case Report, chronic granulomatous disease, Granulomatous Disease, Chronic, Immunohistochemistry, Skin Diseases, Diagnosis, Differential, hemic and lymphatic diseases, outcome, Immunology and Allergy, Humans, symptoms, ddc:610, Age of Onset, neonate, Tomography, X-Ray Computed, lcsh:RC581-607, Biomarkers
Abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.
Published: 2021

46. Supportive Care During Pediatric Hematopoietic Stem Cell Transplantation: Prevention of Infections. A Report From Workshops on Supportive Care of the Paediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author: Ifversen, Marianne, primary, Meisel, Roland, additional, Sedlacek, Petr, additional, Kalwak, Krzysztof, additional, Sisinni, Luisa, additional, Hutt, Daphna, additional, Lehrnbecher, Thomas, additional, Balduzzi, Adriana, additional, Diesch, Tamara, additional, Jarisch, Andrea, additional, Güngör, Tayfun, additional, Stein, Jerry, additional, Yaniv, Isaac, additional, Bonig, Halvard, additional, Kuhlen, Michaela, additional, Ansari, Marc, additional, Nava, Tiago, additional, Dalle, Jean-Hugues, additional, Diaz-de-Heredia, Cristina, additional, Trigoso, Eugenia, additional, Falkenberg, Ulrike, additional, Hartmann, Mihaela, additional, Deiana, Marco, additional, Canesi, Marta, additional, Broggi, Chiara, additional, Bertaina, Alice, additional, Gibson, Brenda, additional, Krivan, Gergely, additional, Vettenranta, Kim, additional, Matic, Toni, additional, Buechner, Jochen, additional, Lawitschka, Anita, additional, Peters, Christina, additional, Yesilipek, Akif, additional, Yalçin, Koray, additional, Lucchini, Giovanna, additional, Bakhtiar, Shahrzad, additional, Turkiewicz, Dominik, additional, Niinimäki, Riitta, additional, Wachowiak, Jacek, additional, Cesaro, Simone, additional, Dalissier, Arnaud, additional, Corbacioglu, Selim, additional, Willasch, Andre Manfred, additional, and Bader, Peter, additional
Published: 2021
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47. Supportive care during pediatric hematopoietic stem cell transplantation: prevention of infections. A report from workshops on supportive care of the Paediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author: Ifversen, Marianne, Meisel, Roland, Sedlacek, Petr, Kalwak, Krzysztof, Sisinni, Luisa, Hutt, Daphna, Lehrnbecher, Thomas, Balduzzi, Adriana, Diesch, Tamara, Jarisch, Andrea, Güngör, Tayfun, Stein, Jerry, Yaniv, Isaac, Bönig, Halvard-Björn, Kuhlen, Michaela, Ansari, Marc, Nava, Tiago, Dalle, Jean-Hugues, Diaz-de-Heredia, Cristina, Trigoso, Eugenia, Falkenberg, Ulrike, Hartmann, Mihaela, Deiana, Marco, Canesi, Marta, Broggi, Chiara, Bertaina, Alice, Gibson, Brenda, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Büchner, Jochen, Lawitschka, Anita, Peters, Christina, Yesilipek, Akif, Yalçin, Koray, Lucchini, Giovanna, Bakhtiar, Shahrzad, Turkiewicz, Dominik, Niinimäki, Riitta, Wachowiak, Jacek, Cesaro, Simone, Dalissier, Arnaud, Corbacioglu, Selim, Willasch, Andre Manfred, Bader, Peter, Ifversen, Marianne, Meisel, Roland, Sedlacek, Petr, Kalwak, Krzysztof, Sisinni, Luisa, Hutt, Daphna, Lehrnbecher, Thomas, Balduzzi, Adriana, Diesch, Tamara, Jarisch, Andrea, Güngör, Tayfun, Stein, Jerry, Yaniv, Isaac, Bönig, Halvard-Björn, Kuhlen, Michaela, Ansari, Marc, Nava, Tiago, Dalle, Jean-Hugues, Diaz-de-Heredia, Cristina, Trigoso, Eugenia, Falkenberg, Ulrike, Hartmann, Mihaela, Deiana, Marco, Canesi, Marta, Broggi, Chiara, Bertaina, Alice, Gibson, Brenda, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Büchner, Jochen, Lawitschka, Anita, Peters, Christina, Yesilipek, Akif, Yalçin, Koray, Lucchini, Giovanna, Bakhtiar, Shahrzad, Turkiewicz, Dominik, Niinimäki, Riitta, Wachowiak, Jacek, Cesaro, Simone, Dalissier, Arnaud, Corbacioglu, Selim, Willasch, Andre Manfred, and Bader, Peter
Abstract: Specific protocols define eligibility, conditioning, donor selection, graft composition and prophylaxis of graft vs. host disease for children and young adults undergoing hematopoietic stem cell transplant (HSCT). However, international protocols rarely, if ever, detail supportive care, including pharmaceutical infection prophylaxis, physical protection with face masks and cohort isolation or food restrictions. Supportive care suffers from a lack of scientific evidence and implementation of practices in the transplant centers brings extensive restrictions to the child's and family's daily life after HSCT. Therefore, the Board of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT) held a series of dedicated workshops since 2017 with the aim of initiating the production of a set of minimal recommendations. The present paper describes the consensus reached within the field of infection prophylaxis.
Published: 2021

48. Simple measurement of IgA predicts immunity and mortality in Ataxia-Telangiectasia

Author: Zielen, Stefan, Dücker, Ruth Pia, Wölke, Sandra, Donath, Helena, Bakhtiar, Shahrzad, Bücker, Aileen, Kreyenberg, Hermann, Hünecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, Flier, Michiel van der, Aerde, Koen van, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Jürgen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus, Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, Bernuth, Horst von, Krüger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Gonzalez Granado, Luis Ignacio, Prader, Seraina Olivia, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schütz, Catharina, Kindle, Gerhard, Schubert, Ralf, Zielen, Stefan, Dücker, Ruth Pia, Wölke, Sandra, Donath, Helena, Bakhtiar, Shahrzad, Bücker, Aileen, Kreyenberg, Hermann, Hünecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, Flier, Michiel van der, Aerde, Koen van, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Jürgen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus, Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, Bernuth, Horst von, Krüger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Gonzalez Granado, Luis Ignacio, Prader, Seraina Olivia, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schütz, Catharina, Kindle, Gerhard, and Schubert, Ralf
Abstract: Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a poorer prognosis. In this study, we analyzed mortality and immunity data of 659 A-T patients with regard to IgA deficiency collected from the European Society for Immunodeficiencies (ESID) registry and from 66 patients with classical A-T who attended at the Frankfurt Goethe-University between 2012 and 2018. We studied peripheral B- and T-cell subsets and T-cell repertoire of the Frankfurt cohort and survival rates of all A-T patients in the ESID registry. Patients with A-T have significant alterations in their lymphocyte phenotypes. All subsets (CD3, CD4, CD8, CD19, CD4/CD45RA, and CD8/CD45RA) were significantly diminished compared to standard values. Patients with IgA deficiency (n = 35) had significantly lower lymphocyte counts compared to A-T patients without IgA deficiency (n = 31) due to a further decrease of naïve CD4 T-cells, central memory CD4 cells, and regulatory T-cells. Although both patient groups showed affected TCR-ß repertoires compared to controls, no differences could be detected between patients with and without IgA deficiency. Overall survival of patients with IgA deficiency was significantly diminished. For the first time, our data show that patients with IgA deficiency have significantly lower lymphocyte counts and subsets, which are accompanied with reduced survival, compared to A-T patients without IgA deficiency. IgA, a simple surrogate marker, is indicating the poorest prognosis for classical A-T patients. Both non-interventional clinical trials were registered at clinicaltrials.gov 2012 (Susceptibility to infections in ataxia-telangiectasia; NCT02345135) and 2017 (Susceptibility to Infections, tumor risk and liver disease in patients with ataxia-telangiectasia; NCT03357978)
Published: 2021

49. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III

Author: Bakhtiar, Shahrzad, Salzmann-Manrique, Emilia, Blok, Henric-Jan, Eikema, Dirk-Jan, Hazelaar, Sheree, Ayas, Mouhab, Toren, Amos, Goldstein, Gal, Moshous, Despina, Locatelli, Franco, Merli, Pietro, Michel, Gerard, Öztürk, Gülyüz, Schulz, Ansgar, Heilmann, Carsten, Ifversen, Marianne, Wynn, Rob F., Aleinikova, Olga, Bertrand, Yves, Tbakhi, Abdelghani, Veys, Paul, Karakukcu, Musa, Kupesiz, Alphan, Ghavamzadeh, Ardeshir, Handgretinger, Rupert, Unal, Emel, Perez-Martinez, Antonio, Gokce, Muge, Porta, Fulvio, Aksu, Tekin, Karasu, Gülsün, Badell, Isabel, Ljungman, Per, Skorobogatova, Elena, Yesilipek, Akif, Zuckerman, Tsila, Bredius, Robbert R. G., Stepensky, Polina, Shadur, Bella, Slatter, Mary, Gennery, Andrew R., Albert, Michael H., Bader, Peter, and Lankester, Arjan
Subjects: Clinical Trials and Observations, Leukocyte-Adhesion Deficiency Syndrome, Hematopoietic Stem Cell Transplantation, Graft vs Host Disease, leukocyte adhesion deficiency type 1, leukocyte, periodontitis, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, HSCT, Leukocytes, Humans, Retrospective Studies
Abstract: Type I and III leukocyte adhesion deficiencies (LADs) are primary immunodeficiency disorders resulting in early death due to infections and additional bleeding tendency in LAD-III. The curative treatment of LAD-I and LAD-III is allogeneic hematopoietic stem cell transplantation (allo-HSCT). In this retrospective multicenter study, data were collected using the European Society for Blood and Marrow Transplantation registry; we analyzed data from 84 LAD patients from 33 centers, all receiving an allo-HSCT from 2007 to 2017. The 3-year overall survival estimate (95% confidence interval [CI]) was 83% (74-92) for the entire cohort: 84% (75-94) and 75% (50-100) for LAD-I and LAD-III, respectively. We observed cumulative incidences (95% CI) of graft failure (GF) at 3 years of 17% (9%-26%) and grade II to IV acute graft-versus-host disease (aGVHD) at 100 days of 24% (15%-34%). The estimate (95% CI) at 3 years for GF- and GVHD-II to IV-free survival as event-free survival (EFS) was 56% (46-69) for the entire cohort; 58% (46-72) and 56% (23-88) for LAD-I and LAD-III, respectively. Grade II to IV acute GVHD was a relevant risk factor for death (hazard ratio 3.6; 95% CI 1.4-9.1; P = .006). Patients' age at transplant >= 13 months, transplantation from a nonsibling donor, and any serological cytomegalovirus mismatch in donor-recipient pairs were significantly associated with severe acute GVHD and inferior EFS. The choice of busulfan- or treosulfan-based conditioning, type of GVHD prophylaxis, and serotherapy did not impact overall survival, EFS, or aGVHD. An intrinsic inflammatory component of LAD may contribute to inflammatory complications during allo-HSCT, thus providing the rationale for considering anti-inflammatory therapy pretreatment.
Published: 2020

50. Supportive care during pediatric hematopoietic stem cell transplantation: beyond infectious diseases. A report from workshops on supportive care of the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Author: Nava, T, Ansari, M, Dalle, J, de Heredia, C, Güngör, T, Trigoso, E, Falkenberg, U, Bertaina, A, Gibson, B, Jarisch, A, Balduzzi, A, Boenig, H, Krivan, G, Vettenranta, K, Matic, T, Büchner, J, Kalwak, K, Lawitschka, A, Yesilipek, A, Lucchini, G, Peters, C, Turkiewicz, D, Niinimäki, R, Diesch, T, Lehrnbecher, T, Sedlacek, P, Hutt, D, Dalissier, A, Wachowiak, J, Yaniv, I, Stein, J, Yalçin, K, Sisinni, L, Deiana, M, Ifversen, M, Kuhlen, M, Miesel, R, Bakhtiar, S, Cesaro, S, Willasch, A, Corbacioglu, S, Bader, P, Nava, Tiago, Ansari, Marc, Dalle, Jean-Hugues, de Heredia, Christina Diaz, Güngör, Tayfun, Trigoso, Eugenia, Falkenberg, Ulrike, Bertaina, Alice, Gibson, Brenda, Jarisch, Andrea, Balduzzi, Adriana, Boenig, Halvard, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Büchner, Jochen, Kalwak, Krzysztof, Lawitschka, Anita, Yesilipek, Akif, Lucchini, Giovanna, Peters, Christina, Turkiewicz, Dominik, Niinimäki, Riitta, Diesch, Tamara, Lehrnbecher, Thomas, Sedlacek, Petr, Hutt, Daphna, Dalissier, Arnaud, Wachowiak, Jacek, Yaniv, Isaac, Stein, Jerry, Yalçin, Koray, Sisinni, Luisa, Deiana, Marco, Ifversen, Marianne, Kuhlen, Michaela, Miesel, Roland, Bakhtiar, Shahrzad, Cesaro, Simone, Willasch, Andre, Corbacioglu, Selim, Bader, Peter, Nava, T, Ansari, M, Dalle, J, de Heredia, C, Güngör, T, Trigoso, E, Falkenberg, U, Bertaina, A, Gibson, B, Jarisch, A, Balduzzi, A, Boenig, H, Krivan, G, Vettenranta, K, Matic, T, Büchner, J, Kalwak, K, Lawitschka, A, Yesilipek, A, Lucchini, G, Peters, C, Turkiewicz, D, Niinimäki, R, Diesch, T, Lehrnbecher, T, Sedlacek, P, Hutt, D, Dalissier, A, Wachowiak, J, Yaniv, I, Stein, J, Yalçin, K, Sisinni, L, Deiana, M, Ifversen, M, Kuhlen, M, Miesel, R, Bakhtiar, S, Cesaro, S, Willasch, A, Corbacioglu, S, Bader, P, Nava, Tiago, Ansari, Marc, Dalle, Jean-Hugues, de Heredia, Christina Diaz, Güngör, Tayfun, Trigoso, Eugenia, Falkenberg, Ulrike, Bertaina, Alice, Gibson, Brenda, Jarisch, Andrea, Balduzzi, Adriana, Boenig, Halvard, Krivan, Gergely, Vettenranta, Kim, Matic, Toni, Büchner, Jochen, Kalwak, Krzysztof, Lawitschka, Anita, Yesilipek, Akif, Lucchini, Giovanna, Peters, Christina, Turkiewicz, Dominik, Niinimäki, Riitta, Diesch, Tamara, Lehrnbecher, Thomas, Sedlacek, Petr, Hutt, Daphna, Dalissier, Arnaud, Wachowiak, Jacek, Yaniv, Isaac, Stein, Jerry, Yalçin, Koray, Sisinni, Luisa, Deiana, Marco, Ifversen, Marianne, Kuhlen, Michaela, Miesel, Roland, Bakhtiar, Shahrzad, Cesaro, Simone, Willasch, Andre, Corbacioglu, Selim, and Bader, Peter
Abstract: Hematopoietic stem cell transplantation (HSCT) is currently the standard of care for many malignant and nonmalignant blood diseases. As several treatment-emerging acute toxicities are expected, optimal supportive measurements critically affect HSCT outcomes. The paucity of good clinical studies in supportive practices gives rise to the establishment of heterogeneous guidelines across the different centers, which hampers direct clinical comparison in multicentric studies. Aiming to harmonize the supportive care provided during the pediatric HSCT in Europe, the Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT) promoted dedicated workshops during the years 2017 and 2018. The present paper describes the resulting consensus on the management of sinusoidal obstructive syndrome, mucositis, enteral and parenteral nutrition, iron overload, and emesis during HSCT.
Published: 2020

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