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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

  3. Ozen, Ahmet; Comrie, William A.; Ardy, Rico C.; Domínguez Conde, Cecilia; Dalgic, Buket; Beser, Ömer F.; Morawski, Aaron R.; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K.; Zhang, Yu; Matthews, Helen F.; Pittaluga, Stefania; Folio, Les R.; Unlusoy Aksu, Aysel; McElwee, Joshua J.; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B.; [...]

    CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

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    Massachusetts Medical Society, 2017

    Published in: New England Journal of Medicine

  4. 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

  5. Spencer, Sarah; Köstel Bal, Sevgi; Egner, William; Lango Allen, Hana; Raza, Syed I.; Ma, Chi A.; Gürel, Meltem; Zhang, Yuan; Sun, Guangping; Sabroe, Ruth A.; Greene, Daniel; Rae, William; Shahin, Tala; Kania, Katarzyna; Ardy, Rico Chandra; Thian, Marini; Staples, Emily; Pecchia-Bekkum, Annika; Worrall, William P.M.; Stephens, Jonathan; Brown, Matthew; Tuna, Salih; York, Melanie; Shackley, Fiona; [...]

    Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

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    Rockefeller University Press, 2019

    Published in: Journal of Experimental Medicine

  6. 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

  7. Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C.; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I.; Jimenez Heredia, Raul; Harms, Frederike L.; Alavi, Samin; Alsina, Laia; Sanchez Moreno, Paula; Ávila Polo, Rainiero; Cabrera-Pérez, Rocío; Kostel Bal, Sevgi; Pfajfer, Laurène; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; [...]

    Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

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    Massachusetts Medical Society, 2023

    Published in: New England Journal of Medicine

  8. Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; [...]

    Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

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    Springer Science and Business Media LLC, 2022

    Published in: Nature Genetics

  9. Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; [...]

    Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Genetics

  10. van Rijn, Jorik M.; Ardy, Rico Chandra; Kuloğlu, Zarife; Härter, Bettina; van Haaften-Visser, Désirée Y.; van der Doef, Hubert P.J.; van Hoesel, Marliek; Kansu, Aydan; van Vugt, Anke H.M.; Thian, Marini; Kokke, Freddy T.M.; Krolo, Ana; Başaran, Meryem Keçeli; Kaya, Neslihan Gurcan; Aksu, Aysel Ünlüsoy; Dalgıç, Buket; Ozcay, Figen; Baris, Zeren; Kain, Renate; Stigter, Edwin C.A.; Lichtenbelt, Klaske D.; Massink, Maarten P.G.; Duran, Karen J.; Verheij, Joke B.G.M; [...]

    Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

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    Elsevier BV, 2018

    Published in: Gastroenterology