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  1. Borchers, Natascha S [Author]; Santos-Valente, Elisangela [Author]; Toncheva, Antoaneta [Author]; Wehkamp, Jan [Author]; Franke, Andre [Author]; Gaertner, Vincent D [Author]; Nordkild, Peter [Author]; Genuneit, Jon [Author]; Jensen, Benjamin A H [Author]; Kabesch, Michael [Author]

    Human β-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model

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    Lausanne: Frontiers, 25 February 2021

    Published in: Frontiers in Immunology ; 12 (2021), 636061

  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]; 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

  3. 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

  6. Paulino, Talita; Rafael, Marina; Silva, Rosangela; Santos-Valente, Elisangela; Souza, Fabíola; Sarni, Roseli; Costa-Carvalho, Beatriz

    Vitamin D and Primary Immunodeficiencies

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    Sciencedomain International, 2015

    Published in: British Journal of Medicine and Medical Research

  8. Borchers, Natascha S.; Santos-Valente, Elisangela; Toncheva, Antoaneta A.; Wehkamp, Jan; Franke, Andre; Gaertner, Vincent D.; Nordkild, Peter; Genuneit, Jon; Jensen, Benjamin A. H.; Kabesch, Michael

    Human β-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model

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    Frontiers Media SA, 2021

    Published in: Frontiers in Immunology

  9. Serwas, Nina Kathrin; Kansu, Aydan; Santos-Valente, Elisangela; Kuloğlu, Zarife; Demir, Arzu; Yaman, Aytaç; Yaneth Gamez Diaz, Laura; Artan, Reha; Sayar, Ersin; Ensari, Arzu; Grimbacher, Bodo; Boztug, Kaan

    Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

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    Oxford University Press (OUP), 2015

    Published in: Inflammatory Bowel Diseases

  10. Ban, Sol A.; Salzer, Elisabeth; Eibl, Martha M.; Linder, Angela; Geier, Christoph B.; Santos-Valente, Elisangela; Garncarz, Wojciech; Lion, Thomas; Ott, Raphael; Seelbach, Christoph; Boztug, Kaan; Wolf, Hermann M.

    Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3

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    Springer Science and Business Media LLC, 2014

    Published in: Journal of Clinical Immunology

  11. Moraes-Pinto, Maria Isabel de; Ono, Erika; Santos-Valente, Elisângela C; Almeida, Liziane C; Andrade, Paula Rosemberg de; Dinelli, Maria Isabel Saraiva; Santos, Amélia M Nunes dos; Salomão, Reinaldo

    Lymphocyte subsets in human immunodeficiency virus-unexposed Brazilian individuals from birth to adulthood

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    FapUNIFESP (SciELO), 2014

    Published in: Memórias do Instituto Oswaldo Cruz

  12. Seidel, Markus G; Duerr, Celia; Woutsas, Stavroula; Schwerin-Nagel, Anette; Sadeghi, Kambis; Neesen, Jürgen; Uhrig, Sabine; Santos-Valente, Elisangela; Pickl, Winfried F; Schwinger, Wolfgang; Urban, Christian; Boztug, Kaan; Förster-Waldl, Elisabeth

    A novel immunodeficiency syndrome associated with partial trisomy 19p13

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    BMJ, 2014

    Published in: Journal of Medical Genetics

  13. Laub, Otto; Leipold, Georg; Toncheva, Antoaneta A.; Peterhoff, David; Einhauser, Sebastian; Neckermann, Patrick; Borchers, Natascha; Santos-Valente, Elisangela; Kheiroddin, Parastoo; Buntrock-Döpke, Heike; Laub, Sarah; Schöberl, Patricia; Schweiger-Kabesch, Andrea; Ewald, Dominik; Horn, Michael; Niggel, Jakob; Ambrosch, Andreas; Überla, Klaus; Gerling, Stephan; Brandstetter, Susanne; Wagner, Ralf; Kabesch, Michael

    Symptoms, SARS-CoV-2 Antibodies, and Neutralization Capacity in a Cross Sectional-Population of German Children

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    Frontiers Media SA, 2021

    Published in: Frontiers in Pediatrics

  14. 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;

    Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

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    Springer Science and Business Media LLC, 2014

    Published in: Nature Communications

  15. Salzer, Elisabeth; Kansu, Aydan; Sic, Heiko; Májek, Peter; Ikincioğullari, Aydan; Dogu, Figen E.; Prengemann, Nina Kathrin; Santos-Valente, Elisangela; Pickl, Winfried F.; Bilic, Ivan; Ban, Sol A; Kuloğlu, Zarife; Demir, Arzu Meltem; Ensari, Arzu; Colinge, Jacques; Rizzi, Marta; Eibel, Hermann; Boztug, Kaan

    Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

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    Elsevier BV, 2014

    Published in: Journal of Allergy and Clinical Immunology

  16. 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

    B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

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    American Society of Hematology, 2013

    Published in: Blood

  17. 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

  18. 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

  19. Santos-Valente, Elisangela; Buntrock-Döpke, Heike; Abou Taam, Rola; Arasi, Stefania; Bakirtas, Arzu; Lozano Blasco, Jaime; Bønnelykke, Klaus; Craiu, Mihai; Cutrera, Renato; Deschildre, Antoine; Elnazir, Basil; Fleming, Louise; Frey, Urs; Gappa, Monika; Nieto García, Antonio; Skamstrup Hansen, Kirsten; Hanssens, Laurence; Jahnz-Rozyk, Karina; Jesenak, Milos; Kerzel, Sebastian; Kopp, Matthias V.; Koppelman, Gerard H.; Krivec, Uros; MacLeod, Kenneth A.; [...]

    Biologicals in childhood severe asthma: the European PERMEABLE survey on the status quo

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    European Respiratory Society (ERS), 2021

    Published in: ERJ Open Research

  20. Geis, Tobias; Brandstetter, Susanne; Toncheva, Antoaneta A.; Laub, Otto; Leipold, Georg; Wagner, Ralf; Kabesch, Michael; Kasser, Severin; Kuhle, Jens; Wellmann, Sven; Aichholzer, Bettina; Mair, Georg; Wruk, Michaela; Reischl, Imke; Ambrosch, Andreas; Antos, David; von Koskull, Stephan; Becker, Christian; Beer, Elisabeth; Schirmer, Hubert; Birkinger, Georg; Blueml, Andreas; Buntrock-Döpke, Heike; Castrop, Mona; [...]

    Serum neurofilament light chain (sNfL) values in a large cross-sectional population of children with asymptomatic to moderate COVID-19

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    Springer Science and Business Media LLC, 2021

    Published in: Journal of Neurology