Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma von Sturm, Dominik, Witt, Hendrik, Hovestadt, Volker, Khuong-Quang, Dong-Anh, Jones, David T.W., Konermann, Carolin, Pfaff, Elke, Tönjes, Martje, Sill, Martin, Bender, Sebastian, Kool, Marcel, Zapatka, Marc, Becker, Natalia, Zucknick, Manuela, Hielscher, Thomas, Liu, Xiao-Yang, Fontebasso, Adam M., Ryzhova, Marina, Albrecht, Steffen, Jacob, Karine, Wolter, Marietta, Ebinger, Martin, Schuhmann, Martin U., van Meter, Timothy, Frühwald, Michael C., Hauch, Holger, Pekrun, Arnulf, Radlwimmer, Bernhard, Niehues, Tim, von Komorowski, Gregor, Dürken, Matthias, Kulozik, Andreas E., Madden, Jenny, Donson, Andrew, Foreman, Nicholas K., Drissi, Rachid, Fouladi, Maryam, Scheurlen, Wolfram, von Deimling, Andreas, Monoranu, Camelia, Roggendorf, Wolfgang, Herold-Mende, Christel, Unterberg, Andreas, Kramm, Christof M., Felsberg, Jörg, Hartmann, Christian, Wiestler, Benedikt, Wick, Wolfgang, Milde, Till, Witt, Olaf, Lindroth, Anders M., Schwartzentruber, Jeremy, Faury, Damien, Fleming, Adam, Zakrzewska, Magdalena, Liberski, Pawel P., Zakrzewski, Krzysztof, Hauser, Peter, Garami, Miklos, Klekner, Almos, Bognar, Laszlo, Morrissy, Sorana, Cavalli, Florence, Taylor, Michael D., van Sluis, Peter, Koster, Jan, Versteeg, Rogier, Volckmann, Richard, Mikkelsen, Tom, Aldape, Kenneth, Reifenberger, Guido, Collins, V. Peter, Majewski, Jacek, Korshunov, Andrey, Lichter, Peter, Plass, Christoph, Jabado, Nada, Pfister, Stefan M.

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Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency von Alkhairy, Omar K., MD, Perez-Becker, Ruy, MD, Driessen, Gertjan J., MD, PhD, Abolhassani, Hassan, MD, van Montfrans, Joris, MD, PhD, Borte, Stephan, MD, Choo, Sharon, MD, Wang, Ning, PhD, Tesselaar, Kiki, PhD, Fang, Mingyan, PhD, Bienemann, Kirsten, MD, Boztug, Kaan, MD, Daneva, Ana, MSc, Mechinaud, Francoise, MD, Wiesel, Thomas, MD, Becker, Christian, MD, Dückers, Gregor, MD, Siepermann, Kathrin, MD, van Zelm, Menno C., PhD, Rezaei, Nima, MD, PhD, van der Burg, Mirjam, PhD, Aghamohammadi, Asghar, MD, PhD, Seidel, Markus G., MD, Niehues, Tim, MD, Hammarström, Lennart, MD, PhD

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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation von Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.

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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency von Walter, Jolan E, Rosen, Lindsey B, Csomos, Krisztian, Rosenberg, Jacob M, Mathew, Divij, Keszei, Marton, Ujhazi, Boglarka, Chen, Karin, Lee, Yu Nee, Tirosh, Irit, Dobbs, Kerry, Al-Herz, Waleed, Cowan, Morton J, Puck, Jennifer, Bleesing, Jack J, Grimley, Michael S, Malech, Harry, De Ravin, Suk See, Gennery, Andrew R, Abraham, Roshini S, Joshi, Avni Y, Boyce, Thomas G, Butte, Manish J, Nadeau, Kari C, Balboni, Imelda, Sullivan, Kathleen E, Akhter, Javeed, Adeli, Mehdi, El-Feky, Reem A, El-Ghoneimy, Dalia H, Dbaibo, Ghassan, Wakim, Rima, Azzari, Chiara, Palma, Paolo, Cancrini, Caterina, Capuder, Kelly, Condino-Neto, Antonio, Costa-Carvalho, Beatriz T, Oliveira, Joao Bosco, Roifman, Chaim, Buchbinder, David, Kumanovics, Attila, Franco, Jose Luis, Niehues, Tim, Schuetz, Catharina, Kuijpers, Taco, Yee, Christina, Chou, Janet, Masaad, Michel J, Geha, Raif, Uzel, Gulbu, Gelman, Rebecca, Holland, Steven M, Recher, Mike, Utz, Paul J, Browne, Sarah K, Notarangelo, Luigi D

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The German National Registry of Primary Immunodeficiencies (2012-2017) von El-Helou, Sabine M, Biegner, Anika-Kerstin, Bode, Sebastian, Ehl, Stephan R, Heeg, Maximilian, Maccari, Maria E, Ritterbusch, Henrike, Speckmann, Carsten, Rusch, Stephan, Scheible, Raphael, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E, Schürmann, Gesine, Sogkas, Georgios, Baumann, Ulrich H, Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krüger, Renate, Hanitsch, Leif G, Scheibenbogen, Carmen M, Wittke, Kirsten, Albert, Michael H, Eichinger, Anna, Hauck, Fabian, Klein, Christoph, Rack-Hoch, Anita, Sollinger, Franz M, Avila, Anne, Borte, Michael, Borte, Stephan, Fasshauer, Maria, Hauenherm, Anja, Kellner, Nils, Müller, Anna H, Ülzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Heß, Ursula, Schubert, Ralf, Wölke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T, Hönig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dückers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Müglich, Carmen, Schmalzing, Marc T, Schwaneck, Eva C, Tony, Hans-Peter, Dirks, Johannes, Haase, Gabriele, Liese, Johannes G, Morbach, Henner, Foell, Dirk, Hellige, Antje, Wittkowski, Helmut, Masjosthusmann, Katja, Mohr, Michael, Geberzahn, Linda, Hedrich, Christian M, Müller, Christiane, Rösen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Jörg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Jürgen K, Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Hülsmann, Brigitte, Schönberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp

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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome von Engelhardt, Karin R., Dr, McGhee, Sean, MD, Winkler, Sabine, MSc, Sassi, Atfa, PhD, Woellner, Cristina, MSc, Lopez-Herrera, Gabriela, PhD, Chen, Andrew, Kim, Hong Sook, PhD, Lloret, Maria Garcia, MD, Schulze, Ilka, MD, Ehl, Stephan, MD, Thiel, Jens, MD, Pfeifer, Dietmar, Dr, Veelken, Hendrik, MD, Niehues, Tim, MD, Siepermann, Kathrin, MD, Weinspach, Sebastian, MD, Reisli, Ismail, MD, Keles, Sevgi, MD, Genel, Ferah, MD, Kutuculer, Necil, MD, Camcoğlu, Yldz, MD, Somer, Ayper, MD, Karakoc-Aydiner, Elif, MD, Barlan, Isil, MD, Gennery, Andrew, MD, Metin, Ayse, MD, PhD, Degerliyurt, Aydan, MD, Pietrogrande, Maria C., MD, Yeganeh, Mehdi, MD, Baz, Zeina, MD, Al-Tamemi, Salem, MD, Klein, Christoph, MD, PhD, Puck, Jennifer M., MD, Holland, Steven M., MD, McCabe, Edward R.B., MD, PhD, Grimbacher, Bodo, MD, Chatila, Talal A., MD, MSc

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Cross-sectional seroprevalence surveys of SARS-CoV-2 antibodies in children in Germany, June 2020 to May 2021 von Sorg, Anna-Lisa, Bergfeld, Leon, Jank, Marietta, Corman, Victor, Semmler, Ilia, Goertz, Anna, Beyerlein, Andreas, Verjans, Eva, Wagner, Norbert, Von Bernuth, Horst, Lander, Fabian, Weil, Katharina, Hufnagel, Markus, Spiekerkoetter, Ute, Chao, Cho-Ming, Naehrlich, Lutz, Muntau, Ania Carolina, Schulze-Sturm, Ulf, Hansen, Gesine, Wetzke, Martin, Jung, Anna-Maria, Niehues, Tim, Fricke-Otto, Susanne, Von Both, Ulrich, Huebner, Johannes, Behrends, Uta, Liese, Johannes G., Schwerk, Christian, Drosten, Christian, Von Kries, Ruediger, Schroten, Horst

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A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis von Speckmann, Carsten, MD, Doerken, Sam, MSc, Aiuti, Alessandro, MD, Albert, Michael H., MD, Al-Herz, Waleed, MD, Allende, Luis M., PhD, Scarselli, Alessia, MD, Avcin, Tadej, MD, Perez-Becker, Ruy, MD, Cancrini, Caterina, MD, PhD, Cant, Andrew, MD, PhD, Di Cesare, Silvia, BSc, Finocchi, Andrea, MD, Fischer, Alain, MD, PhD, Gaspar, H. Bobby, MD, PhD, Ghosh, Sujal, MD, Gennery, Andrew, MD, Gilmour, Kimberly, PhD, González-Granado, Luis I., MD, Martinez-Gallo, Monica, PhD, Hambleton, Sophie, MD, PhD, Hauck, Fabian, MD, PhD, Hoenig, Manfred, MD, Moshous, Despina, MD, PhD, Neven, Benedicte, MD, Niehues, Tim, MD, Notarangelo, Luigi, MD, Picard, Capucine, MD, PhD, Rieber, Nikolaus, MD, Schulz, Ansgar, MD, Schwarz, Klaus, MD, Seidel, Markus G., MD, Soler-Palacin, Pere, MD, Stepensky, Polina, MD, Strahm, Brigitte, MD, Vraetz, Thomas, MD, Warnatz, Klaus, MD, Winterhalter, Christine, Worth, Austen, MD, Fuchs, Sebastian, PhD, Uhlmann, Annette, Dr rer nat, Ehl, Stephan, MD

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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome von Woellner, Cristina, MSc, Gertz, E. Michael, PhD, Schäffer, Alejandro A., PhD, Lagos, Macarena, MD, Perro, Mario, MSc, Glocker, Erik-Oliver, MD, Pietrogrande, Maria C., MD, Cossu, Fausto, MD, Franco, José L., MD, PhD, Matamoros, Nuria, MD, Pietrucha, Barbara, MD, PhD, Heropolitańska-Pliszka, Edyta, MD, Yeganeh, Mehdi, MD, Moin, Mostafa, MD, Español, Teresa, MD, PhD, Ehl, Stephan, MD, Gennery, Andrew R., MD, Abinun, Mario, MD, PhD, Bręborowicz, Anna, MD, Niehues, Tim, MD, Kilic, Sara Sebnem, MD, Junker, Anne, MD, Turvey, Stuart E., MD, PhD, Plebani, Alessandro, MD, Sánchez, Berta, PhD, Garty, Ben-Zion, MD, Pignata, Claudio, MD, Cancrini, Caterina, MD, Litzman, Jiri, MD, Sanal, Özden, MD, Baumann, Ulrich, MD, Bacchetta, Rosa, MD, Hsu, Amy P., BA, Davis, Joie N., CRNP, Hammarström, Lennart, MD, Davies, E. Graham, MD, Eren, Efrem, MD, Arkwright, Peter D., MD, PhD, Moilanen, Jukka S., MD, PhD, Viemann, Dorothee, MD, Khan, Sujoy, MRCP, Maródi, László, MD, Cant, Andrew J., MD, Freeman, Alexandra F., MD, Puck, Jennifer M., MD, Holland, Steven M., MD, Grimbacher, Bodo, MD

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Lung disease in STAT3 hyper‐IgE syndrome requires intense therapy von Kröner, Carolin, Neumann, Jens, Ley‐Zaporozhan, Julia, Hagl, Beate, Meixner, Iris, Spielberger, Benedikt D., Dückers, Gregor, Belohradsky, Bernd H., Niehues, Tim, Borte, Michael, Rosenecker, Joseph, Kappler, Matthias, Nährig, Susanne, Reu, Simone, Griese, Matthias, Renner, Ellen D.

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Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism ( FBP1, ACAD9) and vesicle trafficking (RAB27A) von Brauer, Nina, Maruta, Yuto, Lisci, Miriam, Strege, Katharina, Oschlies, Ilske, Nakamura, Hikari, Böhm, Svea, Lehmberg, Kai, Brandhoff, Leon, Ehl, Stephan, Parvaneh, Nima, Klapper, Wolfram, Fukuda, Mitsunori, Griffiths, Gillian M, Hennies, Hans Christian, Niehues, Tim, Ammann, Sandra

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Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential von Meixner, Iris, Hagl, Beate, Kroener, Carolin I., Spielberger, Benedikt D., Paschos, Ekaterini, Dueckers, Gregor, Niehues, Tim, Hesse, Ronny, Renner, Ellen D.

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Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature von Carl, Cécile, Dinkelbach, Lars, Mohr, Julia, Perez, Ruy, Vera Lopez, Tobias, Fricke-Otto, Susanne, Niehues, Tim

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Freiwillige vor! „Human challenge“ mit SARS-CoV-2 von Niehues, Tim

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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency von Walter, Jolan E, Rucci, Francesca, Patrizi, Laura, Recher, Mike, Regenass, Stephan, Paganini, Tiziana, Keszei, Marton, Pessach, Itai, Lang, Philipp A, Poliani, Pietro Luigi, Giliani, Silvia, Al-Herz, Waleed, Cowan, Morton J, Puck, Jennifer M, Bleesing, Jack, Niehues, Tim, Schuetz, Catharina, Malech, Harry, DeRavin, Suk See, Facchetti, Fabio, Gennery, Andrew R, Andersson, Emma, Kamani, Naynesh R, Sekiguchi, JoAnn, Alenezi, Hamid M, Chinen, Javier, Dbaibo, Ghassan, ElGhazali, Gehad, Fontana, Adriano, Pasic, Srdjan, Detre, Cynthia, Terhorst, Cox, Alt, Frederick W, Notarangelo, Luigi D

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NEMO is a key component of NF-κB– and IRF-3–dependent TLR3-mediated immunity to herpes simplex virus von Audry, Magali, PhD, Ciancanelli, Michael, PhD, Yang, Kun, MD, PhD, Cobat, Aurelie, MD, PhD, Chang, Huey-Hsuan, PhD, Sancho-Shimizu, Vanessa, PhD, Lorenzo, Lazaro, Niehues, Tim, MD, PhD, Reichenbach, Janine, MD, Li, Xiao-Xia, PhD, Israel, Alain, PhD, Abel, Laurent, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Zhang, Shen-Ying, MD, PhD, Jouanguy, Emmanuelle, PhD, Puel, Anne, PhD

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Lesson from hypomorphic recombination-activating gene ( RAG ) mutations: Why asymptomatic siblings should also be tested von Schuetz, Catharina, MD, Pannicke, Ulrich, PhD, Jacobsen, Eva-Maria, PhD, Burggraf, Siegfried, PhD, Albert, Michael H., MD, Hönig, Manfred, MD, Niehues, Tim, MD, Feyen, Oliver, PhD, Ehl, Stephan, MD, Debatin, Klaus-Michael, MD, Friedrich, Wilhelm, MD, Schulz, Ansgar S., MD, Schwarz, Klaus, MD

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Experiences with IL-1 blockade in systemic juvenile idiopathic arthritis - data from the German AID-registry von Lainka, Elke, Baehr, Melanie, Raszka, Bernadette, Haas, Johannes-Peter, Huegle, Boris, Fischer, Nadine, Foell, Dirk, Hinze, Claas, Weissbarth-Riedel, Elisabeth, Kallinich, Tilmann, Horneff, Gerd, Windschall, Daniel, Lilienthal, Eggert, Niehues, Tim, Neudorf, Ulrich, Berendes, Rainer, Kuester, Rolf-Michael, Oommen, Prasad Thomas, Rietschel, Christoph, Lutz, Thomas, Weller-Heinemann, Frank, Tenbrock, Klaus, Heubner, Georg Leonhard, Klotsche, Jens, Wittkowski, Helmut

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The febrile child: diagnosis and treatment von Niehues, Tim

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Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency von Ghosh, Sujal, Hönscheid, Andrea, Dückers, Gregor, Ginzel, Sebastian, Gohlke, Holger, Gombert, Michael, Kempkes, Bettina, Klapper, Wolfram, Kuhlen, Michaela, Laws, Hans-Jürgen, Linka, René Martin, Meisel, Roland, Mielke, Christian, Niehues, Tim, Schindler, Detlev, Schneider, Dominik, Schuster, Friedhelm R, Speckmann, Carsten, Borkhardt, Arndt

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