A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis

Authors: Rao, V. Koneti, Šedivá, Anna, Dalm, Virgil A.S.H., Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Trizzino, Antonino, Zharankova, Yulia, Orpia, Alanvin, Kulm, Elaine, Webster, Sharon, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Conlon, Niall, Coulter, Tanya, Bradt, Jason, Relan, Anurag, Uzel, Gulbu

Source: In Clinical Immunology January 2025 270

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

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Authors: 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

Source: In The Journal of Allergy and Clinical Immunology January 2024 153(1):275-286

Interim analysis: Open-label extension study of leniolisib for patients with APDS

Authors: Rao, V. Koneti, Kulm, Elaine, Šedivá, Anna, Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Dalm, Virgil A., Trizzino, Antonino, Zharankova, Yulia, Webster, Sharon, Orpia, Alanvin, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Radford, Kath, Bradt, Jason, Relan, Anurag, Holland, Steven M., Lenardo, Michael J., Uzel, Gulbu

Source: In The Journal of Allergy and Clinical Immunology January 2024 153(1):265-274

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

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Authors: Rao, V. Koneti, Webster, Sharon, Šedivá, Anna, Plebani, Alessandro, Schuetz, Catharina, Shcherbina, Anna, Conlon, Niall, Coulter, Tanya, Dalm, Virgil A., Trizzino, Antonino, Zharankova, Yulia, Kulm, Elaine, Körholz, Julia, Lougaris, Vassilios, Rodina, Yulia, Radford, Kath, Bradt, Jason, Kucher, Klaus, Relan, Anurag, Holland, Steven M., Lenardo, Michael J., Uzel, Gulbu

Source: In Blood 2 March 2023 141(9):971-983

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

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Authors: Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, Wagner, Matias

Source: Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p

IKAROS--how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.

Authors: Strauss, Timmy, Körholz, Julia, Hye Sun Kuehn, Gil Silva, Agustin A., Taube, Franziska, Trautmann-Grill, Karolin, Stittrich, Anna, Pietzsch, Leonora, Wiedemuth, Ralf, Wahn, Volker, von Bernuth, Horst, Rosenzweig, Sergio D., Fasshauer, Maria, Krüger, Renate, Schuetz, Catharina

Source: Frontiers in Pediatrics; 2024, p01-09, 9p

One gene to rule them all -- clinical perspectives of a potent suppressor of cytokine signaling -- SOCS1.

Authors: Körholz, Julia, Lan-Sun Chen, Strauss, Timmy, Schuetz, Catharina, Dalpke, Alexander H.

Source: Frontiers in Immunology; 5/6/2024, p01-08, 8p

Subject Terms: SUPPRESSORS of cytokine signaling, HEMATOPOIETIC stem cell transplantation, AUTOIMMUNE diseases, CURATIVE medicine, GENETIC variation, CELL physiology, GENE therapy

Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers.

Authors: Vanselow, Sven, Hanitsch, Leif, Hauck, Fabian, Körholz, Julia, Maccari, Maria-Elena, Meinhardt, Andrea, Sogkas, Georgios, Schuetz, Catharina, Grimbacher, Bodo

Source: Frontiers in Immunology; 2023, p1-9, 9p

Subject Terms: STEM cell transplantation, WHOLE genome sequencing, DIAGNOSIS, GENETIC disorder diagnosis, MOLECULAR diagnosis

Geographic Terms: GERMANY

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

Authors: 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, Abinun, Mario, Abrahamsen, Tore, Albert, Michael, Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Berger, Thomas, Biebl, Ariane, Bielack, Stefan, Biskup, Saskia, Bismarck, Philipp, Bode, Sebastian, Borchers, Regine, Boztug, Carl Friedrich, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Cant, Andrew, Castro, Carla N, Classen, Carl, 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, Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Andrew J, Gungoren, Ezgi, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Holzinger, Dirk, Huisman, Elise, Jakovljevic, Gordana, James, Beki, Janda, Ales, Janda, Małgorzata, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian, Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Ezgi Yalcin, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Michael H., Meinhardt, Andrea, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte, Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Rita, Page, Markus G., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Puzik, Alexander, Rajacic, Nada, Rothoeft, Tobias, Ryan, Freimut H., Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Antonio E., Schmid, Jana, Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Tore G., Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus, Siepermann, Kathrin, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Elise J, Teltschik, Charlotte M., Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, Wegehaupt, Oliver, Wiesel, Thomas

Source: The Lancet Haematology; February 2024, Vol. 11 Issue: 2 pe114-e126, 13p

A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans

Authors: Körholz, Julia, Richter, Nicole, Schäfer, Jochen, Schuetz, Catharina, Roesler, Joachim

Source: Molecular and cellular pediatrics. 7(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190739717.0x000001&indx=1&recIds=ETOCvdc_100190739717.0x000001

Interim Analysis of Safety and Hematological Parameters of an Ongoing Long-Term Open-Label Extension Study of Investigational PI3Kδ Inhibitor Leniolisib for Patients with Activated PI3K Delta Syndrome (APDS) through December 2021

Authors: Rao, V. Koneti, Webster, Sharon ^*, Sediva, Anna ^*, Plebani, Alessandro ^*, Schuetz, Catharina ^*, Shcherbina, Anna ^*, Dalm, Virgil A.S.H. ^*, Trizzino, Antonino ^*, Zharankova, Yulia ^*, Kulm, Elaine ^*, Orpia, Alanvin ^*, Chirombo Kluczynski, Lavenda ^*, Körholz, Julia ^*, Lougaris, Vassilios ^*, Rodina, Yulia ^*, Kucher, Klaus ^*, Radford, Kath ^*, Bradt, Jason ^*, Uzel, Gulbu ^*

Source: In Blood 15 November 2022 140 Supplement 1:1643-1645

Transition for adolescents with a rare disease: results of a nationwide German project.

Authors: Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M., Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J., Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias

Source: Orphanet Journal of Rare Diseases; 4/25/2023, Vol. 18 Issue 1, p1-9, 9p

Subject Terms: RARE diseases, HEALTH literacy, PATIENT participation, TEENAGERS, MEDICAL care, CHILD patients

Geographic Terms: GERMANY

Novel mutation and expanding phenotype in IRF2BP2 deficiency.

Authors: Körholz, Julia¹, Gabrielyan, Anastasia¹, Sczakiel, Henrike Lisa², Schulze, Livia³, Rejzek, Manuela³, Laass, Martin W¹, Leuchten, Nicolai⁴, Tiebel, Oliver⁵, Aust, Diana⁶, Conrad, Karsten³, Röber, Nadja³, Jacobsen, Eva-Maria⁷, Ehmke, Nadja², Berner, Reinhard^1,8, Lucas, Nadja¹, Lee-Kirsch, Minae A^1,8, Wiedemuth, Ralf¹, Roesler, Joachim¹, Roers, Axel³, Amendt, Timm⁹

Source: Rheumatology. Apr2023, Vol. 62 Issue 4, p1699-1705. 7p.

Subject Terms: *GENETIC mutation, *COLONOSCOPY, *COMMON variable immunodeficiency, *DIGESTIVE system endoscopic surgery, *PHENOTYPES

Hyper-IgE and Carcinoma in CADINS Disease.

Authors: Pietzsch, Leonora, Körholz, Julia, Boschann, Felix, Sergon, Mildred, Dorjbal, Batsukh, Yee, Debra, Gilly, Vanessa, Kämmerer, Eva, Paul, Diana, Kastl, Clemens, Laass, Martin W., Berner, Reinhard, Jacobsen, Eva Maria, Roesler, Joachim, Aust, Daniela, Lee-Kirsch, Min A., Snow, Andrew L., Schuetz, Catharina

Source: Frontiers in Immunology; 5/16/2022, Vol. 13, p1-10, 10p

Subject Terms: CUTANEOUS T-cell lymphoma, COMMON variable immunodeficiency, CERVICAL intraepithelial neoplasia, GENETIC variation, SQUAMOUS cell carcinoma, GENITAL warts, CARCINOMA

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Authors: Körholz, Julia, Gabrielyan, Anastasia, Sowerby, John M., Boschann, Felix, Chen, Lan-Sun, Paul, Diana, Brandt, David, Kleymann, Janina, Kolditz, Martin, Toepfner, Nicole, Knöfler, Ralf, Jacobsen, Eva-Maria, Wolf, Christine, Conrad, Karsten, Röber, Nadja, Lee-Kirsch, Min Ae, Smith, Kenneth G. C., Mundlos, Stefan, Berner, Reinhard, Dalpke, Alexander H.

Source: Frontiers in Immunology; 8/5/2021, Vol. 12, p1-11, 11p

Subject Terms: SUPPRESSORS of cytokine signaling, T helper cells, RIBOSOMAL proteins, GENETIC pleiotropy, GAIN-of-function mutations, TOLL-like receptors

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Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

Authors: Körholz, Julia, Lucas, Nadja, Boiti, Franziska, Althaus, Karina, Tiebel, Oliver, Fang, Mingyan, Berner, Reinhard, Lee-Kirsch, Min Ae, Knöfler, Ralf

Source: TH Open; October 2020, Vol. 4 Issue: 4 pe413-e416, 4p