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  1. Serwas, Nina K. [Author]; Höger, Birgit [Author]; Ardy, Rico C. [Author]; Stulz, Sigrun V. [Author]; Sui, Zhenhua [Author]; Memaran, Nima [Author]; Meeths, Marie [Author]; Krolo, Ana [Author]; Yüce Petronczki, Özlem [Author]; Pfajfer, Laurène [Author]; Hou, Tie Zheng [Author]; Halliday, Neil [Author]; Santos-Valente, Elisangela [Author]; Kalinichenko, Artem [Author]; Kennedy, Alan [Author]; Mace, Emily M. [Author]; Mukherjee, Malini [Author]; Tesi, Bianca [Author]; Schrempf, Anna [Author]; Loizou, Joanna I. [Author]; Kain, Renate [Author]; Bidmon-Fliegenschnee, Bettina [Author]; Schickel, Jean-Nicolas [Author]; Glauzy, Salomé [Author]; [...]

    Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

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    London: Springer Science+Business Media, 2019

    Published in: Nature communications ; 10, 1 (2019), 3106

  2. Serwas, Nina K. [Author]; Höger, Birgit [Author]; Ardy, Rico C. [Author]; Stulz, Sigrun V. [Author]; Sui, Zhenhua [Author]; Memaran, Nima [Author]; Meeths, Marie [Author]; Krolo, Ana [Author]; Yüce Petronczki, Özlem [Author]; Pfajfer, Laurène [Author]; Hou, Tie Zheng [Author]; Halliday, Neil [Author]; Santos-Valente, Elisangela [Author]; Kalinichenko, Artem [Author]; Kennedy, Alan [Author]; Mace, Emily M. [Author]; Mukherjee, Malini [Author]; Tesi, Bianca [Author]; Schrempf, Anna [Author]; Pickl, Winfried F. [Author]; Loizou, Joanna I. [Author]; Kain, Renate [Author]; Bidmon-Fliegenschnee, Bettina [Author]; Schickel, Jean-Nicolas [Author]; [...]

    Publisher correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

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    London: Springer Science+Business Media, 2019

    Published in: Nature communications ; 10, 1 (2019), 4555

  4. Kalinichenko, Artem; Perinetti Casoni, Giovanna; Dupré, Loïc; Trotta, Luca; Huemer, Jakob; Galgano, Donatella; German, Yolla; Haladik, Ben; Pazmandi, Julia; Thian, Marini; Yüce Petronczki, Özlem; Chiang, Samuel C.; Taskinen, Mervi; Hekkala, Anne; Kauppila, Saila; Lindgren, Outi; Tapiainen, Terhi; Kraakman, Michael J.; Vettenranta, Kim; Lomakin, Alexis J.; Saarela, Janna; Seppänen, Mikko R. J.; Bryceson, Yenan T.; Boztug, Kaan

    RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

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    American Society of Hematology, 2021

    Published in: Blood

  5. 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

    Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

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    American Society for Clinical Investigation, 2019

    Published in: Journal of Clinical Investigation

  6. Shahin, Tala; Mayr, Daniel; Shoeb, Mohamed R.; Kuehn, Hye Sun; Hoeger, Birgit; Giuliani, Sarah; Gawriyski, Lisa M.; Petronczki, Özlem Yüce; Hadjadj, Jérôme; Bal, Sevgi Köstel; Zoghi, Samaneh; Haimel, Matthias; Jimenez Heredia, Raul; Boutboul, David; Triebwasser, Michael P.; Rialland-Battisti, Fanny; Costedoat Chalumeau, Nathalie; Quartier, Pierre; Tangye, Stuart G.; Fleisher, Thomas A.; Rezaei, Nima; Romberg, Neil; Latour, Sylvain; Varjosalo, Markku; [...]

    Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

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    American Society of Hematology, 2022

    Published in: Blood Advances

  7. 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; [...]

    RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

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    Springer Science and Business Media LLC, 2016

    Published in: Nature Immunology

  8. 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; [...]

    Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

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    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications

  9. Serwas, Nina K.; Hoeger, Birgit; Ardy, Rico C.; Stulz, Sigrun V.; Sui, Zhenhua; Memaran, Nima; Meeths, Marie; Krolo, Ana; Petronczki, Özlem Yüce; 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; [...]

    Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

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    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications