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  1. Krüger, Renate; Martin, Emmanuel; Dmytrus, Jasmin; Feiterna-Sperling, Cornelia; Meisel, Christian; Unterwalder, Nadine; Kölsch, Uwe; Wahn, Volker; Hofmann, Jörg; Korn, Paula; Latour, Sylvain; Boztug, Kaan; von Bernuth, Horst

    CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman

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    Frontiers Media SA, 2020

    Published in: Frontiers in Immunology, 11 (2020)

  2. Rosenfeld, Leonard; Mas Marques, Andreas; Niendorf, Sandra; Hofmann, Jörg; Gratopp, Alexander; Kühl, Jörn‐Sven; Schulte, Johannes H.; von Bernuth, Horst; Voigt, Sebastian

    Life‐threatening systemic rotavirus infection after vaccination in severe combined immunodeficiency (SCID)

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    Wiley, 2017

    Published in: Pediatric Allergy and Immunology, 28 (2017) 8, Seite 841-843

  3. Schöndorf, Dominik; von Bernuth, Horst; Simon, Arne; Schneider, Günther; Kölsch, Uwe; Schwarz, Klaus; Meier, Clemens-Magnus; Groe-Onnebrink, Jörg; Gortner, Ludwig; Rohrer, Tilman R.

    Liver Abscess Complicated by Diaphragm Perforation and Pleural Empyema Leads to the Discovery of Interleukin-1 Receptor-associated Kinase 4 Deficiency

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    Ovid Technologies (Wolters Kluwer Health), 2014

    Published in: Pediatric Infectious Disease Journal, 33 (2014) 7, Seite 767-769

  4. Pörksen, Gönke; Lohse, Peter; Rösen‐Wolff, Angela; Heyden, Stefan; Förster, Theresa; Wendisch, Jörg; Heubner, Georg; von Bernuth, Horst; Sallmann, Svea; Gahr, Manfred; Roesler, Joachim

    Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients – expanding phenotype of CIAS1 related autoinflammatory syndrome

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    Wiley, 2004

    Published in: European Journal of Haematology, 73 (2004) 2, Seite 123-127

  5. Baumann, Ulrich; Schulte, Johannes H.; Groß, Jonathan P.; Beier, Rita; Ludwig, Marius; Wahn, Volker; Hofmann, Jörg; Maecker-Kolhoff, Britta; Sauer, Martin; Kaiser-Labusch, Petra; Karimian, Negin; Blume-Peytavi, Ulrike; Ghoreschi, Franziska; Ott, Hagen; Perelygina, Ludmila; Klemann, Christian; Blankenstein, Oliver; von Bernuth, Horst; Krüger, Renate

    Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders – Outcome After Hematopoietic Stem Cell Transplantation

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    Frontiers Media SA, 2022

    Published in: Frontiers in Immunology, 13 (2022)

  6. Doehn, Jan-Moritz; Tabeling, Christoph; Biesen, Robert; Saccomanno, Jacopo; Madlung, Elena; Pappe, Eva; Gabriel, Frieder; Kurth, Florian; Meisel, Christian; Corman, Victor M.; Hanitsch, Leif G.; Treskatsch, Sascha; Heim, Kathrin; Stegemann, Miriam S.; Ruwwe-Glösenkamp, Christoph; Müller-Redetzky, Holger C.; Uhrig, Alexander; Somasundaram, Rajan; Spies, Claudia; von Bernuth, Horst; Hofmann, Jörg; Drosten, Christian; Suttorp, Norbert; Witzenrath, Martin; [...]

    CD169/SIGLEC1 is expressed on circulating monocytes in COVID-19 and expression levels are associated with disease severity

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    Springer Science and Business Media LLC, 2021

    Published in: Infection, 49 (2021) 4, Seite 757-762

  7. El-Helou, Sabine M.; Biegner, Anika-Kerstin; Bode, Sebastian; Ehl, Stephan R.; Heeg, Maximilian; Maccari, Maria E.; Ritterbusch, Henrike; Speckmann, Carsten; Rusch, Stephan; Scheible, Raphael; Warnatz, Klaus; Atschekzei, Faranaz; Beider, Renata; Ernst, Diana; Gerschmann, Stev; Jablonka, Alexandra; Mielke, Gudrun; Schmidt, Reinhold E.; Schürmann, Gesine; Sogkas, Georgios; Baumann, Ulrich H.; Klemann, Christian; Viemann, Dorothee; von Bernuth, Horst; [...]

    The German National Registry of Primary Immunodeficiencies (2012–2017)

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    Frontiers Media SA, 2019

    Published in: Frontiers in Immunology, 10 (2019)

  8. Bastard, Paul; Rosen, Lindsey B.; Zhang, Qian; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Zhang, Yu; Dorgham, Karim; Philippot, Quentin; Rosain, Jérémie; Béziat, Vivien; Manry, Jérémy; Shaw, Elana; Haljasmägi, Liis; Peterson, Pärt; Lorenzo, Lazaro; Bizien, Lucy; Trouillet-Assant, Sophie; Dobbs, Kerry; de Jesus, Adriana Almeida; Belot, Alexandre; Kallaste, Anne; Catherinot, Emilie; Tandjaoui-Lambiotte, Yacine; Le Pen, Jeremie; [...]

    Autoantibodies against type I IFNs in patients with life-threatening COVID-19

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    American Association for the Advancement of Science (AAAS), 2020

    Published in: Science, 370 (2020) 6515

  9. Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jérémie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K. D.; Hodeib, Stephanie; Korol, Cecilia; Rosain, Jérémie; Bilguvar, Kaya; Ye, Junqiang; Bolze, Alexandre; Bigio, Benedetta; Yang, Rui; Arias, Andrés Augusto; Zhou, Qinhua; Zhang, Yu; Onodi, Fanny; Korniotis, Sarantis; Karpf, Léa; Philippot, Quentin; Chbihi, Marwa; [...]

    Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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    American Association for the Advancement of Science (AAAS), 2020

    Published in: Science, 370 (2020) 6515

  10. Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M.; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; [...]

    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

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    Springer Science and Business Media LLC, 2024

    Published in: Genome Medicine, 16 (2024) 1

  11. Marchal, Astrid; Cirulli, Elizabeth T.; Neveux, Iva; Bellos, Evangelos; Thwaites, Ryan S.; Schiabor Barrett, Kelly M.; Zhang, Yu; Nemes-Bokun, Ivana; Kalinova, Mariya; Catchpole, Andrew; Tangye, Stuart G.; Spaan, András N.; Lack, Justin B.; Ghosn, Jade; Burdet, Charles; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Abel, Laurent; Aiuti, Alessandro; Al-Muhsen, Saleh; Al-Mulla, Fahd; Amara, Ali; Anderson, Mark S.; [...]

    Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

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    Elsevier BV, 2024

    Published in: Human Genetics and Genomics Advances, 5 (2024) 3, Seite 100300