Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 von Salzer, Elisabeth, Daschkey, Svenja, Choo, Sharon, Gombert, Michael, Santos-Valente, Elisangela, Ginzel, Sebastian, Schwendinger, Martina, Haas, Oskar A, Fritsch, Gerhard, Pickl, Winfried F, Förster-Waldl, Elisabeth, Borkhardt, Arndt, Boztug, Kaan, Bienemann, Kirsten, Seidel, Markus G

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Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency von Salzer, Elisabeth, MD, Kansu, Aydan, MD, Sic, Heiko, PhD, Májek, Peter, PhD, Ikincioğullari, Aydan, MD, Dogu, Figen E., MD, Prengemann, Nina Kathrin, MSc, Santos-Valente, Elisangela, MD, MSc, Pickl, Winfried F., PhD, Bilic, Ivan, PhD, Ban, Sol A, Kuloğlu, Zarife, MD, Demir, Arzu Meltem, MD, Ensari, Arzu, MD, Colinge, Jacques, PhD, Rizzi, Marta, PhD, Eibel, Hermann, PhD, Boztug, Kaan, MD

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Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R von Erman, Baran, Bilic, Ivan, Hirschmugl, Tatjana, Salzer, Elisabeth, Çagdas, Deniz, Esenboga, Saliha, Akcoren, Zuhal, Sanal, Ozden, Tezcan, Ilhan, Boztug, Kaan

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Rapid and sustained T cell-based immunotherapy against invasive fungal disease via a combined two step procedure von Tischer-Zimmermann, Sabine, Salzer, Elisabeth, Bitencourt, Tamires, Frank, Nelli, Hoffmann-Freimüller, Christine, Stemberger, Julia, Maecker-Kolhoff, Britta, Blasczyk, Rainer, Witt, Volker, Fritsch, Gerhard, Paster, Wolfgang, Lion, Thomas, Eiz-Vesper, Britta, Geyeregger, René

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PD‐L1 and PD1 expression in post‐transplantation lymphoproliferative disease (PTLD) of childhood and adolescence: An inter‐ and intra‐individual descriptive study covering the whol... von Schiefer, Ana‐Iris, Salzer, Elisabeth, Füreder, Anna, Szepfalusi, Zsolt, Müller‐Sacherer, Thomas, Huber, Wolf‐Dietrich, Michel‐Behnke, Ina, Lawitschka, Anita, Pichler, Herbert, Mann, Georg, Hutter, Caroline, Simonitsch‐Klupp, Ingrid, Attarbaschi, Andishe

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The value of immunotherapy in pediatric leukemia and lymphoma von Salzer, Elisabeth, Attarbaschi, Andishe

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Therapy concepts in the context of precision medicine for pediatric malignancies—children are not adults von Salzer, Elisabeth, Hutter, Caroline

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Protein Kinase C δ: a Gatekeeper of Immune Homeostasis von Salzer, Elisabeth, Santos-Valente, Elisangela, Keller, Bärbel, Warnatz, Klaus, Boztug, Kaan

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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress von Conde, Cecilia Domínguez, Petronczki, Özlem Yüce, Baris, Safa, Willmann, Katharina L, Girardi, Enrico, Salzer, Elisabeth, Weitzer, Stefan, Ardy, Rico Chandra, Krolo, Ana, Ijspeert, Hanna, Kiykim, Ayca, Karakoc-Aydiner, Elif, Förster-Waldl, Elisabeth, Kager, Leo, Pickl, Winfried F, Superti-Furga, Giulio, Martínez, Javier, Loizou, Joanna I, Ozen, Ahmet, van der Burg, Mirjam, Boztug, Kaan

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency von Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily S.J., Pillay, Bethany, Jiménez Heredia, Raúl, Erol Cipe, Funda, Rao, Geetha, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David A., Zhang, Yu, Oler, Andrew J., Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya K., Hauck, Fabian, Kogler, Hubert, Hoepelman, Andy I.M., Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad T., Morris, Emma, Neven, Benedicte, Worth, Austen, van Montfrans, Joris, Fraaij, Pieter L.A., Choo, Sharon, Dogu, Figen, Davies, E. Graham, Burns, Siobhan, Dückers, Gregor, Becker, Ruy Perez, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen C., Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael J., Ma, Cindy S., Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart G., Lankester, Arjan C., Boztug, Kaan

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Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis von Serwas, Nina K., Hoeger, Birgit, Ardy, Rico C., Stulz, Sigrun V., Sui, Zhenhua, Memaran, Nima, Meeths, Marie, Krolo, Ana, Yüce Petronczki, Özlem, Pfajfer, Laurène, Hou, Tie Z., Halliday, Neil, Santos-Valente, Elisangela, Kalinichenko, Artem, Kennedy, Alan, Mace, Emily M., Mukherjee, Malini, Tesi, Bianca, Schrempf, Anna, Pickl, Winfried F., Loizou, Joanna I., Kain, Renate, Bidmon-Fliegenschnee, Bettina, Schickel, Jean-Nicolas, Glauzy, Salomé, Huemer, Jakob, Garncarz, Wojciech, Salzer, Elisabeth, Pierides, Iro, Bilic, Ivan, Thiel, Jens, Priftakis, Peter, Banerjee, Pinaki P., Förster-Waldl, Elisabeth, Medgyesi, David, Huber, Wolf-Dietrich, Orange, Jordan S., Meffre, Eric, Sansom, David M., Bryceson, Yenan T., Altman, Amnon, Boztug, Kaan

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PERITONEAL DIALYSIS FLUID INDUCES p38-DEPENDENT INFLAMMATION IN HUMAN MESOTHELIAL CELLS von RIESENHUBER, Andrea, KRATOCHWILL, Klaus, BENDER, Thorsten O, VARGHA, Regina, KASPER, David C, HERZOG, Rebecca, SALZER, Elisabeth, AUFRICHT, Christoph

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B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ von Salzer, Elisabeth, Santos-Valente, Elisangela, Klaver, Stefanie, Ban, Sol A., Emminger, Wolfgang, Prengemann, Nina Kathrin, Garncarz, Wojciech, Müllauer, Leonhard, Kain, Renate, Boztug, Heidrun, Heitger, Andreas, Arbeiter, Klaus, Eitelberger, Franz, Seidel, Markus G., Holter, Wolfgang, Pollak, Arnold, Pickl, Winfried F., Förster-Waldl, Elisabeth, Boztug, Kaan

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Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia von Takada, Sanami, Weitering, Thomas J., van Os, Nienke J.H., Du, Likun, Pico-Knijnenburg, Ingrid, Kuipers, Thomas B., Mei, Hailiang, Salzer, Elisabeth, Willemsen, Michèl A.A.P., Weemaes, Corry M.R., Pan-Hammarstrom, Qiang, van der Burg, Mirjam

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Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity von Willmann, Katharina L., Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Domínguez Conde, Cecilia, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P., Vladimer, Gregory I., Haskoloğlu, Şule, Gökalp Bolkent, Musa, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F., van Zelm, Menno C., Eibel, Hermann, Orange, Jordan S., Ikincioğulları, Aydan, Boztuğ, Kaan

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RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics von Salzer, Elisabeth, Cagdas, Deniz, Hons, Miroslav, Mace, Emily M, Garncarz, Wojciech, Petronczki, Özlem Yüce, Platzer, René, Pfajfer, Laurène, Bilic, Ivan, Ban, Sol A, Willmann, Katharina L, Mukherjee, Malini, Supper, Verena, Hsu, Hsiang Ting, Banerjee, Pinaki P, Sinha, Papiya, McClanahan, Fabienne, Zlabinger, Gerhard J, Pickl, Winfried F, Gribben, John G, Stockinger, Hannes, Bennett, Keiryn L, Huppa, Johannes B, Dupré, Loïc, Sanal, Özden, Jäger, Ulrich, Sixt, Michael, Tezcan, Ilhan, Orange, Jordan S, Boztug, Kaan

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Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia von Serwas, Nina Kathrin, Cagdas, Deniz, Ban, Sol A., Bienemann, Kirsten, Salzer, Elisabeth, Tezcan, İlhan, Borkhardt, Arndt, Sanal, Ozden, Boztug, Kaan

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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum von Krenn, Martin, Salzer, Elisabeth, Simonitsch-Klupp, Ingrid, Rath, Jakob, Wagner, Matias, Haack, Tobias B., Strom, Tim M., Schänzer, Anne, Kilimann, Manfred W., Schmidt, Ralf L. J., Schmetterer, Klaus G., Zimprich, Alexander, Boztug, Kaan, Hahn, Andreas, Zimprich, Fritz

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia von Boztug, Kaan, Järvinen, Päivi M, Salzer, Elisabeth, Racek, Tomas, Mönch, Sebastian, Garncarz, Wojciech, Gertz, E Michael, Schäffer, Alejandro A, Antonopoulos, Aristotelis, Haslam, Stuart M, Schieck, Lena, Puchałka, Jacek, Diestelhorst, Jana, Appaswamy, Giridharan, Lescoeur, Brigitte, Giambruno, Roberto, Bigenzahn, Johannes W, Elling, Ulrich, Pfeifer, Dietmar, Conde, Cecilia Domínguez, Albert, Michael H, Welte, Karl, Brandes, Gudrun, Sherkat, Roya, van der Werff ten Bosch, Jutte, Rezaei, Nima, Etzioni, Amos, Bellanné-Chantelot, Christine, Superti-Furga, Giulio, Penninger, Josef M, Bennett, Keiryn L, von Blume, Julia, Dell, Anne, Donadieu, Jean, Klein, Christoph

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

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