The different faces of GATA2 deficiency: implications for therapy and surveillance von Vinci, Luca, Strahm, Brigitte, Speckmann, Carsten, Erlacher, Miriam

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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency von Gámez-Díaz, Laura, MSc, August, Dietrich, cand. MD, Stepensky, Polina, MD, Revel-Vilk, Shoshana, MD, MSc, Seidel, Markus G., MD, Noriko, Mitsuiki, MD, Morio, Tomohiro, MD, PhD, Worth, Austen J.J., MD, PhD, Blessing, Jacob, MD, PhD, Van de Veerdonk, Frank, MD, PhD, Feuchtinger, Tobias, MD, Kanariou, Maria, MD, PhD, Schmitt-Graeff, Annette, MD, Jung, Sophie, DD, PhD, Seneviratne, Suranjith, MD, PhD, Burns, Siobhan, MD, Belohradsky, Bernd H., MD, Rezaei, Nima, MD, PhD, Bakhtiar, Shahrzad, MD, Speckmann, Carsten, MD, Jordan, Michael, MD, Grimbacher, Bodo, MD

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Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient von Thalhammer, Julian, Maccari, Maria Elena, Wegehaupt, Oliver, Ehl, Stephan, Speckmann, Carsten

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Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient von Wegehaupt, Oliver, Muckenhaupt, Tina, Johnson, Matthew B, Schwab, Karl Otfried, Speckmann, Carsten

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Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency von Keller, Baerbel, Shoukier, Moneef, Schulz, Kathrin, Bhatt, Arshiya, Heine, Ines, Strohmeier, Valentina, Speckmann, Carsten, Engels, Niklas, Warnatz, Klaus, Wienands, Jürgen

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Disease‐causing mutations in the XIAP BIR2 domain impair NOD2‐dependent immune signalling von Damgaard, Rune Busk, Fiil, Berthe Katrine, Speckmann, Carsten, Yabal, Monica, Stadt, Udo zur, Bekker‐Jensen, Simon, Jost, Philipp J., Ehl, Stephan, Mailand, Niels, Gyrd‐Hansen, Mads

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Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome von Völkl, Simon, Rensing-Ehl, Anne, Allgäuer, Andrea, Schreiner, Elisabeth, Lorenz, Myriam Ricarda, Rohr, Jan, Klemann, Christian, Fuchs, Ilka, Schuster, Volker, von Bueren, André O., Naumann-Bartsch, Nora, Gambineri, Eleonora, Siepermann, Kathrin, Kobbe, Robin, Nathrath, Michaela, Arkwright, Peter D., Miano, Maurizio, Stachel, Klaus-Daniel, Metzler, Markus, Schwarz, Klaus, Kremer, Anita N., Speckmann, Carsten, Ehl, Stephan, Mackensen, Andreas

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Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells von Rieber, Nikolaus, Singh, Anurag, Öz, Hasan, Carevic, Melanie, Bouzani, Maria, Amich, Jorge, Ost, Michael, Ye, Zhiyong, Ballbach, Marlene, Schäfer, Iris, Mezger, Markus, Klimosch, Sascha N., Weber, Alexander N.R., Handgretinger, Rupert, Krappmann, Sven, Liese, Johannes, Engeholm, Maik, Schüle, Rebecca, Salih, Helmut Rainer, Marodi, Laszlo, Speckmann, Carsten, Grimbacher, Bodo, Ruland, Jürgen, Brown, Gordon D., Beilhack, Andreas, Loeffler, Juergen, Hartl, Dominik

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Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis von Blincoe, Annaliesse, Heeg, Maximilian, Campbell, Patrick K., Hines, Melissa, Khojah, Amer, Klein-Gitelman, Marisa, Talano, Julie-An, Speckmann, Carsten, Touzot, Fabien, Lankester, Arjan, Legger, Geertje E., Rivière, Jacques G., Garcia-Prat, Marina, Alonso, Laura, Putti, Maria C., Lehmberg, Kai, Maier, Sarah, El Chazli, Yasmine, Elmaksoud, Marwa Abd, Astigarraga, Itziar, Kurjane, Natalja, Bulina, Inita, Kenina, Viktorija, Bryceson, Yenan, Rascon, Jelena, Lortie, Anne, Goldstein, Gal, Booth, Claire, Worth, Austen, Wassmer, Evangeline, Schmitt, Erica G., Warren, Julia T., Bednarski, Jeffrey J., Ali, Salah, Chiang, Kuang-Yueh, Krueger, Joerg, Henry, Michael M., Holland, Steven M., Marsh, Rebecca A., Ehl, Stephan, Haddad, Elie

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Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies von Nagy, Magdolna, Mastenbroek, Tom G, Mattheij, Nadine J A, de Witt, Susanne, Clemetson, Kenneth J, Kirschner, Janbernd, Schulz, Ansgar S, Vraetz, Thomas, Speckmann, Carsten, Braun, Attila, Cosemans, Judith M E M, Zieger, Barbara, Heemskerk, Johan W M

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Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation von Meinhardt, Andrea, Ramos, Paula C., Dohmen, R. Jürgen, Lucas, Nadja, Lee-Kirsch, Min Ae, Becker, Benjamin, de Laffolie, Jan, Cunha, Tomás, Niehues, Tim, Salzer, Ulrich, Yoshimi, Ayami, Erlacher, Miriam, Peters, Anke M. J., Ehl, Stephan, Strahm, Brigitte, Speckmann, Carsten

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Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome von Klemann, Christian, Esquivel, Myrian, Magerus-Chatinet, Aude, Lorenz, Myriam R, Fuchs, Ilka, Neveux, Nathalie, Castelle, Martin, Rohr, Jan, da Cunha, Claudia Bettoni, Ebinger, Martin, Kobbe, Robin, Kremens, Bernhard, Kollert, Florian, Gambineri, Eleonora, Lehmberg, Kai, Seidel, Markus G, Siepermann, Kathrin, Voelker, Thomas, Schuster, Volker, Goldacker, Sigune, Schwarz, Klaus, Speckmann, Carsten, Picard, Capucine, Fischer, Alain, Rieux-Laucat, Frederic, Ehl, Stephan, Rensing-Ehl, Anne, Neven, Benedicte

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Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD von Arnold, Danielle E., Nofal, Rofida, Wakefield, Connor, Lehmberg, Kai, Wustrau, Katharina, Albert, Michael H., Morris, Emma C., Heimall, Jennifer R., Bunin, Nancy J., Kumar, Ashish, Jordan, Michael B., Cole, Theresa, Choo, Sharon, Brettig, Tim, Speckmann, Carsten, Ehl, Stephan, Salamonowicz, Malgorzata, Wahlstrom, Justin, Rao, Kanchan, Booth, Claire, Worth, Austen, Marsh, Rebecca A.

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Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations von Toskov, Vasil, Kaiser-Labusch, Petra, Lee-Kirsch, Min Ae, Ehl, Stephan, Wegehaupt, Oliver

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Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? von Krausz, Máté, Mitsuiki, Noriko, Falcone, Valeria, Komp, Johanna, Posadas-Cantera, Sara, Lorenz, Hanns-Martin, Litzman, Jiri, Wolff, Daniel, Kanariou, Maria, Heinkele, Anita, Speckmann, Carsten, Häcker, Georg, Hengel, Hartmut, Gámez-Díaz, Laura, Grimbacher, Bodo

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Corrigendum: Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? von Krausz, Máté, Mitsuiki, Noriko, Falcone, Valeria, Komp, Johanna, Posadas-Cantera, Sara, Lorenz, Hanns-Martin, Litzman, Jiri, Wolff, Daniel, Kanariou, Maria, Heinkele, Anita, Speckmann, Carsten, Häcker, Georg, Hengel, Hartmut, Gámez-Díaz, Laura, Grimbacher, Bodo

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Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants von Suessmuth, Kira, Metze, Dieter, Muresan, Ana-Maria, Lehmberg, Kai, Zur Stadt, Udo, Speckmann, Carsten, Park, Julien Heinrich, Marquardt, Thorsten, Oji, Vinzenz, Goerge, Tobias

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Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 von Fliegauf, Manfred, Kinnunen, Matias, Posadas-Cantera, Sara, Camacho-Ordonez, Nadezhda, Abolhassani, Hassan, Alsina, Laia, Atschekzei, Faranaz, Bogaert, Delfien J., Burns, Siobhan O., Church, Joseph A., Dückers, Gregor, Freeman, Alexandra F., Hammarström, Lennart, Hanitsch, Leif Gunnar, Kerre, Tessa, Kobbe, Robin, Sharapova, Svetlana O., Siepermann, Kathrin, Speckmann, Carsten, Steiner, Sophie, Verma, Nisha, Walter, Jolan E., Westermann-Clark, Emma, Goldacker, Sigune, Warnatz, Klaus, Varjosalo, Markku, Grimbacher, Bodo

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High Levels of IL-18 and IFN-γ in Chronically Inflamed Tissue in Chronic Granulomatous Disease von Meda Spaccamela, Virginia, Valencia, Rocio G, Pastukhov, Oleksandr, Duppenthaler, Andrea, Dettmer, Matthias S, Erb, Juliane, Steiner, Urs C, Hillinger, Sven, Speckmann, Carsten, Ehl, Stephan, Reichenbach, Janine, Siler, Ulrich

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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots von la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Malvagia, Sabrina, BSc, Funghini, Silvia, PhD, Moriondo, Maria, BSc, Valleriani, Claudia, BSc, Lippi, Francesca, MD, Ombrone, Daniela, BSc, Della Bona, Maria Luisa, PharmSc, Speckmann, Carsten, MD, Borte, Stephan, MD, Brodszki, Nicholas, MD, Gennery, Andrew R., MD, Weinacht, Katja, Celmeli, Fatih, MD, Pagel, Julia, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Wittkowski, Helmut, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Ikinciogullari, Aydan, MD, Hershfield, Michael, MD, Notarangelo, Luigi D., MD, Resti, Massimo, MD, Azzari, Chiara, MD

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