The Type I Interferonopathies von Lee-Kirsch, Min Ae

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The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonop... von Cetin Gedik, Kader, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A., Armangue, Thais, Barchus, Kathe, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P., Lee‐Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M. Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M., Vanderver, Adeline, Brogan, Paul A., Goldbach‐Mansky, Raphaela

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More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation von Bienias, Marc, Gabrielyan, Anastasia, Geberzahn, Linda, Rösen‐Wolff, Angela, Huebner, Angela, Jacobsen, Eva‐Maria, Toepfner, Nicole, Fang, Mingyan, Lee‐Kirsch, Min Ae, Roesler, Joachim, Schuetz, Catharina, Atanaskovic‐Markovic, Marina

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Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema von Marenholz, Ingo, Gimenez Rivera, Vladimir A., Esparza-Gordillo, Jorge, Bauerfeind, Anja, Lee-Kirsch, Min-Ae, Ciechanowicz, Andrzej, Kurek, Michael, Piskackova, Tereza, Macek, Milan, Lee, Young-Ae

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Sensing of RNA stress by mTORC1 drives autoinflammation von Lee-Kirsch, Min Ae

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Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance von Esparza-Gordillo, Jorge, Matanovic, Anja, Marenholz, Ingo, Bauerfeind, Anja, Rohde, Klaus, Nemat, Katja, Lee-Kirsch, Min-Ae, Nordenskjöld, Magnus, Winge, Marten C G, Keil, Thomas, Krüger, Renate, Lau, Susanne, Beyer, Kirsten, Kalb, Birgit, Niggemann, Bodo, Hübner, Norbert, Cordell, Heather J, Bradley, Maria, Lee, Young-Ae

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The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1 von Yan, Nan, Regalado-Magdos, Ashton D, Stiggelbout, Bart, Lee-Kirsch, Min Ae, Lieberman, Judy

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Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors von Sürün, Duran, Schneider, Aksana, Mircetic, Jovan, Neumann, Katrin, Lansing, Felix, Paszkowski-Rogacz, Maciej, Hänchen, Vanessa, Lee-Kirsch, Min Ae, Buchholz, Frank

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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA von Wolf, Christine, Rapp, Alexander, Berndt, Nicole, Staroske, Wolfgang, Schuster, Max, Dobrick-Mattheuer, Manuela, Kretschmer, Stefanie, König, Nadja, Kurth, Thomas, Wieczorek, Dagmar, Kast, Karin, Cardoso, M. Cristina, Günther, Claudia, Lee-Kirsch, Min Ae

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Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood von Günther, Claudia, Wolf, Christine, Fennen, Louisa, Rösing, Sarah, Beissert, Stefan, Aringer, Martin, Lee-Kirsch, Min Ae

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Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK von Kanderova, Veronika, Svobodova, Tamara, Borna, Simon, Fejtkova, Martina, Martinu, Vendula, Paderova, Jana, Svaton, Michael, Kralova, Jarmila, Fronkova, Eva, Klocperk, Adam, Pruhova, Stepanka, Lee-Kirsch, Min Ae, Hornofova, Ludmila, Koblizek, Miroslav, Novak, Petr, Zimmermannova, Olga, Parackova, Zuzana, Sediva, Anna, Kalina, Tomas, Janda, Ales, Kayserova, Jana, Dvorakova, Marcela, Macek, Milan, Pohunek, Petr, Sedlacek, Petr, Poh, Ashleigh, Ernst, Matthias, Brdicka, Tomas, Hrusak, Ondrej, Lebl, Jan

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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Fede... von Choukair, Daniela, Hauck, Fabian, Bettendorf, Markus, Krude, Heiko, Klein, Christoph, Bäumer, Tobias, Berner, Reinhard, Lee-Kirsch, Min Ae, Grasemann, Corinna, Burgard, Peter, Hoffmann, Georg F

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Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations von Hänchen, Vanessa, Kretschmer, Stefanie, Wolf, Christine, Engel, Kerstin, Khattak, Shahryar, Neumann, Katrin, Lee-Kirsch, Min Ae

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Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations von Hänchen, Vanessa, Kretschmer, Stefanie, Wolf, Christine, Engel, Kerstin, Khattak, Shahryar, Neumann, Katrin, Lee-Kirsch, Min Ae

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Monogenic lupus – from gene to targeted therapy von Menzel, Katharina, Novotna, Kateryna, Jeyakumar, Nivya, Wolf, Christine, Lee-Kirsch, Min Ae

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Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis? von Heinen, André, Schnabel, Anja, Brück, Normi, Smitka, Martin, Wolf, Christine, Lucas, Nadja , Dollinger, Stefanie, Hahn, Gabriele, Günther, Claudia, Berner, Reinhard, Lee-Kirsch, Min Ae, Schuetz, Catharina

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A common variant on chromosome 11q13 is associated with atopic dermatitis von Esparza-Gordillo, Jorge, Weidinger, Stephan, Fölster-Holst, Regina, Bauerfeind, Anja, Ruschendorf, Franz, Patone, Giannino, Rohde, Klaus, Marenholz, Ingo, Schulz, Florian, Kerscher, Tamara, Hubner, Norbert, Wahn, Ulrich, Schreiber, Stefan, Franke, Andre, Vogler, Rainer, Heath, Simon, Baurecht, Hansjörg, Novak, Natalija, Rodriguez, Elke, Illig, Thomas, Lee-Kirsch, Min-Ae, Ciechanowicz, Andrzej, Kurek, Michael, Piskackova, Tereza, Macek, Milan, Lee, Young-Ae, Ruether, Andreas

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A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report von Weidler, Sophia, Koss, Sarah, Wolf, Christine, Lucas, Nadja, Brunner, Jürgen, Lee-Kirsch, Min Ae

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Transition for adolescents with a rare disease: results of a nationwide German project von Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M, Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J, Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C, Grüters, Annette, Hoffmann, Georg F, Choukair, Daniela

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Single-stranded nucleic acids promote SAMHD1 complex formation von Tüngler, Victoria, Staroske, Wolfgang, Kind, Barbara, Dobrick, Manuela, Kretschmer, Stefanie, Schmidt, Franziska, Krug, Claudia, Lorenz, Mike, Chara, Osvaldo, Schwille, Petra, Lee-Kirsch, Min Ae

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