Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy

Authors: Seidel, Markus G., Hauck, Fabian

Source: In The Journal of Allergy and Clinical Immunology March 2024 153(3):615-628

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

Authors: 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 ^†, Ehl, Stephan ^{†, *}

Source: In The Lancet Haematology February 2024 11(2):e114-e126

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

Authors: 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., Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology October 2023 152(4):984-996

Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation

Authors: Bakhtiar, Shahrzad, Kaffenberger, Celia, Salzmann-Manrique, Emilia, Donhauser, Sabine, Lueck, Leon, Karaca, Neslihan Edeer, Gonzalez-Granado, Luis I., Hazar, Esra, Keles, Sevgi, Seidel, Markus G., Fekadu, Julia, Königs, Christoph, Schubert, Ralf, Bader, Peter, Huenecke, Sabine

Source: In Journal of Autoimmunity October 2022 132

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Authors: Yang, Linlin, Booth, Claire, Speckmann, Carsten, Seidel, Markus G., Worth, Austen J.J., Kindle, Gerhard, Lankester, Arjan C., Grimbacher, Bodo, Gennery, Andrew R., Seppanen, Mikko R.J., Morris, Emma C., Burns, Siobhan O.

Source: Journal of allergy and clinical immunology. 150(2):456-466

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168367830.0x000001&indx=1&recIds=ETOCvdc_100168367830.0x000001

Therapeutic options for CTLA-4 insufficiency

Authors: 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

Source: Journal of allergy and clinical immunology. 149(2):736-746

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154958064.0x000001&indx=1&recIds=ETOCvdc_100154958064.0x000001

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

Authors: 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

Source: Journal of allergy and clinical immunology. 149(1):369-378

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152552129.0x000001&indx=1&recIds=ETOCvdc_100152552129.0x000001

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Authors: Sediva, Anna, Neven, Benedicte, Hauck, Fabian, Warnatz, Klaus, Pac, Malgorzata, Carrabba, Maria, Palacin, Pere, Jandus, Peter, Gardulf, Ann, Mahlaoui, Nizar, Pergent, Martine, Schutz, Catharina, Sharapova, Svetlana, Vassilios, Lougaris, Candotti, Fabio, Volpi, Stephano, Yang, Linlin, Booth, Claire, Speckmann, Carsten, Seidel, Markus G., Worth, Austen J.J., Kindle, Gerhard, Lankester, Arjan C., Grimbacher, Bodo, Gennery, Andrew R., Seppanen, Mikko R.J., Morris, Emma C., Burns, Siobhan O.

Source: In The Journal of Allergy and Clinical Immunology August 2022 150(2):456-466

Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).

Authors: Fox, Thomas A., Massey, Valerie, Lever, Charley, Pearce, Rachel, Laurence, Arian, Grace, Sarah, Oliviero, Filippo, Workman, Sarita, Symes, Andrew, Lowe, David M., Fiaccadori, Valeria, Hough, Rachael, Tadros, Susan, Burns, Siobhan O., Seidel, Markus G., Carpenter, Ben, Morris, Emma C.

Source: Journal of Clinical Immunology; 1/6/2025, Vol. 45 Issue 1, p1-14, 14p

Subject Terms: HEMATOPOIETIC stem cell transplantation, STEM cell transplantation, MEDICAL sciences, CELL transplantation, GRAFT versus host disease

Precision medicine in diagnosis, prognosis, and disease monitoring of bone and soft tissue sarcomas using liquid biopsy: a systematic review.

Authors: Smolle, Maria Anna¹ (AUTHOR), Seidel, Markus G.² (AUTHOR) maria.smolle@medunigraz.at, Kashofer, Karl³ (AUTHOR) karl.kashofer@medunigraz.at, Liegl-Atzwanger, Bernadette³ (AUTHOR) bernadette.liegl-atzwanger@medunigraz.at, Sadoghi, Patrick¹ (AUTHOR) patrick.sadoghi@medunigraz.at, Müller, Daniel A.⁴ (AUTHOR) daniel.mueller@balgrist.ch, Leithner, Andreas¹ (AUTHOR) andreas.leithner@medunigraz.at

Source: Archives of Orthopaedic & Trauma Surgery. 2025, Vol. 145 Issue 1, p1-23. 23p.

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

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

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

Misdiagnosed thrombocytopenia in children and adolescents: analysis of the Pediatric and Adult Registry on Chronic ITP

Authors: Schifferli, Alexandra ^*, Heiri, Andrea, Imbach, Paul, Holzhauer, Susanne, Seidel, Markus G., Nugent, Diane, Michel, Marc, Kühne, Thomas

Source: In Blood Advances 23 March 2021 5(6):1617-1626

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

Authors: 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., Seidel, Markus G.

Source: In The Journal of Allergy and Clinical Immunology May 2020 145(5):1452-1463

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients

Authors: Passerini, Laura ^∗, Barzaghi, Federica ^∗, Curto, Rosalia, Sartirana, Claudia, Barera, Graziano, Tucci, Francesca, Albarello, Luca, Mariani, Alberto, Testoni, Pier Alberto, Bazzigaluppi, Elena, Bosi, Emanuele, Lampasona, Vito, Neth, Olaf, Zama, Daniele, Hoenig, Manfred, Schulz, Ansgar, Seidel, Markus G., Rabbone, Ivana, Olek, Sven, Roncarolo, Maria G., Cicalese, Maria P., Aiuti, Alessandro, Bacchetta, Rosa

Source: In The Journal of Allergy and Clinical Immunology April 2020 145(4):1262-1271

Concurrence of a kinase‐dead BRAF and an oncogenic KRAS gain‐of‐function mutation in juvenile xanthogranuloma

Authors: Seidel, Markus G, Brcic, Luka, Hoefler, Gerald, Hutter, Caroline, Minkov, Milen, Steffen, Laura Sophie, Zebisch, Armin, Benesch, Martin

Source: Pediatric blood & cancer. 70(4)

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

Authors: Abinun, Mario, Albert, Michael, Cohen, Sarah Beaussant, Bustamante, Jacinta, Cant, Andrew, Casanova, Jean-Laurent, Chapel, Helen, de Saint Basile, Genevieve, de Vries, Esther, Dokal, Inderjeet, Donadieu, Jean, Durandy, Anne, Edgar, David, Espanol, Teresa, Etzioni, Amos, Fischer, Alain, Gaspar, Bobby, Gatti, Richard, Gennery, Andrew, Grigoriadou, Sofia, Holland, Steven, Janka, Gritta, Kanariou, Maria, Klein, Christoph, Lachmann, Helen, Lilic, Desa, Manson, Ania, Martinez, Natalia, Meyts, Isabelle, Moes, Nicolette, Moshous, Despina, Neven, Benedicte, Ochs, Hans, Picard, Capucine, Renner, Ellen, Rieux-Laucat, Frederic, Seger, Reinhard, Soresina, Annarosa, Stoppa-Lyonnet, Dominique, Thon, Vojtech, Thrasher, Adrian, van de Veerdonk, Frank, Villa, Anna, Weemaes, Corry, Warnatz, Klaus, Wolska, Beata, Zhang, Shen-Yin, Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology: In Practice July-August 2019 7(6):1763-1770

Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders

Authors: Hauck, Fabian, Voss, Rebecca, Urban, Christian, Seidel, Markus G.

Source: In The Journal of Allergy and Clinical Immunology January 2018 141(1):59-68

Successful Treatment with SCIG of a Child with Refractory Chronic ITP

Authors: Karastaneva, Anna, Klobassa, Daniela S., Minkov, Milen, Benesch, Martin, Seidel, Markus G.

Source: Journal of clinical immunology. 39(1):19-22

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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Authors: Gallon, Richard, Mühlegger, Barbara, Wenzel, Sören‐Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Baris Feldman, Hagit, Chong, Anne‐Laure, Demirsoy, Ugur, Florkin, Benoît, Imschweiler, Thomas, Januszkiewicz‐Lewandowska, Danuta, Lobitz, Stephan, Nathrath, Michaela, Pander, Hans‐Jürgen, Perez‐Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel, Seidel, Markus G., Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie‐Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez‐Koref, Mauro, Wimmer, Katharina

Source: Human mutation. 40(5):649-655

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Immunological recovery following HLA‐matched CD3+ TCR αß+/CD19+ depleted hematopoietic stem cell transplantation in children

Authors: Sperl, Daniela, Lang, Peter, Benesch, Martin, Bainschab, Antonia, Urban, Christian, Wilfing, Roland, Feuchtinger, Tobias, Döring, Michaela, Seitz, Christian, Strenger, Volker, Lackner, Herwig, Seidel, Markus G., Perwein, Thomas, Handgretinger, Rupert, Sipurzynski, Sabine, Rosskopf, Konrad, Schwinger, Wolfgang

Source: Pediatric transplantation. 26(5)

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