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1.

Tissue factor binds to and inhibits interferon-α receptor 1 signaling.

Manoharan, Jayakumar; Rana, Rajiv; Kuenze, Georg; Gupta, Dheerendra; Elwakiel, Ahmed; Ambreen, Saira; Wang, Hongjie; Banerjee, Kuheli; Zimmermann, Silke; Singh, Kunal; Gupta, Anubhuti; Fatima, Sameen; Kretschmer, Stefanie; Schaefer, Liliana; Zeng-Brouwers, Jinyang; Schwab, Constantin; Al-Dabet, Moh'd Mohanad; Gadi, Ihsan; Altmann, Heidi; Koch, Thea; Poitz, David M; Baber, Ronny; Kohli, Shrey; Shahzad, Khurrum; Geffers, Robert; Lee-Kirsch, Min Ae; Kalinke, Ulrich; Meiler, Jens; Mackman, Nigel; Isermann, Berend.

Immunity ; 57(1): 68-85.e11, 2024 Jan 09.

Artículo en Inglés | MEDLINE | ID: mdl-38141610

2.

SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.

Maharana, Shovamayee; Kretschmer, Stefanie; Hunger, Susan; Yan, Xiao; Kuster, David; Traikov, Sofia; Zillinger, Thomas; Gentzel, Marc; Elangovan, Shobha; Dasgupta, Padmanava; Chappidi, Nagaraja; Lucas, Nadja; Maser, Katharina Isabell; Maatz, Henrike; Rapp, Alexander; Marchand, Virginie; Chang, Young-Tae; Motorin, Yuri; Hubner, Norbert; Hartmann, Gunther; Hyman, Anthony A; Alberti, Simon; Lee-Kirsch, Min Ae.

Mol Cell ; 82(19): 3712-3728.e10, 2022 10 06.

Artículo en Inglés | MEDLINE | ID: mdl-36150385

3.

Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.

Hasan, Maroof; Koch, James; Rakheja, Dinesh; Pattnaik, Asit K; Brugarolas, James; Dozmorov, Igor; Levine, Beth; Wakeland, Edward K; Lee-Kirsch, Min Ae; Yan, Nan.

Nat Immunol ; 14(1): 61-71, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23160154

4.

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.

Toskov, Vasil; Kaiser-Labusch, Petra; Lee-Kirsch, Min Ae; Ehl, Stephan; Wegehaupt, Oliver.

J Clin Immunol ; 44(6): 129, 2024 May 22.

Artículo en Inglés | MEDLINE | ID: mdl-38773012

5.

Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.

Wolf, Christine; Fischer, Hannah; Kühl, Jörn-Sven; Koss, Sarah; Jamra, Rami Abou; Starke, Sven; Schultz, Jurek; Ehl, Stephan; Neumann, Katrin; Schuetz, Catharina; Huber, Robert; Hornung, Veit; Lee-Kirsch, Min Ae.

J Allergy Clin Immunol ; 152(5): 1336-1344.e5, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-37544411

6.

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

Kapp, Friedrich G; Kretschmer, Stefanie; Beckmann, Cora C A; Wäsch, Lena; Molitor, Anne; Carapito, Raphaël; Schubert, Mario; Lucas, Nadja; Conrad, Solène; Poignant, Sylvaine; Isidor, Bertrand; Rohlfs, Meino; Kisaarslan, Aysenur Paç; Schanze, Denny; Zenker, Martin; Schmitt-Graeff, Annette; Strahm, Brigitte; Peters, Anke; Yoshimi, Ayami; Driever, Wolfgang; Zillinger, Thomas; Günther, Claudia; Maharana, Shovamayee; Guan, Kaomei; Klein, Christoph; Ehl, Stephan; Niemeyer, Charlotte M; Unal, Ekrem; Bahram, Seiamak; Hauck, Fabian; Lee-Kirsch, Min Ae; Speckmann, Carsten.

Clin Immunol ; 256: 109777, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-37741518

7.

The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.

Staus, Paulina; Rusch, Stephan; El-Helou, Sabine; Müller, Gabriele; Krausz, Máté; Geisen, Ulf; Caballero-Oteyza, Andrés; Krüger, Renate; Bakhtiar, Shahrzad; Lee-Kirsch, Min Ae; Fasshauer, Maria; Baumann, Ulrich; Hoyer, Bimba Franziska; Farela Neves, João; Borte, Michael; Carrabba, Maria; Hauck, Fabian; Ehl, Stephan; Bader, Peter; von Bernuth, Horst; Atschekzei, Faranaz; Seppänen, Mikko R J; Warnatz, Klaus; Nieters, Alexandra; Kindle, Gerhard; Grimbacher, Bodo.

J Clin Immunol ; 43(6): 1289-1301, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37084016

8.

Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.

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.

J Allergy Clin Immunol ; 149(4): 1464-1472.e3, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-34536415

9.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

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.

Ann Rheum Dis ; 81(5): 601-613, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35086813

10.

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

Yan, Nan; Regalado-Magdos, Ashton D; Stiggelbout, Bart; Lee-Kirsch, Min Ae; Lieberman, Judy.

Nat Immunol ; 11(11): 1005-13, 2010 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-20871604

11.

[How Often is Rare Really Rare? A Survey on the Frequency of Rare Diseases at a University Hospital]. / Wie häufig ist selten wirklich? Eine Erhebung zur Häufigkeit Seltener Erkrankungen an einem Universitätsklinikum.

Kretschmer, Tanita; Danker, Adrian; Müller, Olaf; Rösen-Wolff, Angela; Lee-Kirsch, Min Ae; Berner, Reinhard.

Gesundheitswesen ; 84(6): 526-531, 2022 Jun.

Artículo en Alemán | MEDLINE | ID: mdl-33860487

12.

[Uncovering rare diseases in medical data-coding]. / Seltene Erkrankungen in den Daten sichtbar machen Kodierung.

Martin, Tamara; Rommel, Kathrin; Thomas, Carina; Eymann, Jutta; Kretschmer, Tanita; Berner, Reinhard; Lee-Kirsch, Min Ae; Hebestreit, Helge.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz ; 65(11): 1133-1142, 2022 Nov.

Artículo en Alemán | MEDLINE | ID: mdl-36239768

13.

The Type I Interferonopathies.

Lee-Kirsch, Min Ae.

Annu Rev Med ; 68: 297-315, 2017 01 14.

Artículo en Inglés | MEDLINE | ID: mdl-27813875

14.

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

Achleitner, Martin; Kleefisch, Martin; Hennig, Alexander; Peschke, Katrin; Polikarpova, Anastasia; Oertel, Reinhard; Gabriel, Benjamin; Schulze, Livia; Lindeman, Dirk; Gerbaulet, Alexander; Fiebig, Uwe; Lee-Kirsch, Min Ae; Roers, Axel; Behrendt, Rayk.

J Immunol ; 199(7): 2261-2269, 2017 10 01.

Artículo en Inglés | MEDLINE | ID: mdl-28835460

15.

Therapeutic Approaches to Type I Interferonopathies.

Bienias, Marc; Brück, Normi; Griep, Constanze; Wolf, Christine; Kretschmer, Stefanie; Kind, Barbara; Tüngler, Victoria; Berner, Reinhard; Lee-Kirsch, Min Ae.

Curr Rheumatol Rep ; 20(6): 32, 2018 04 20.

Artículo en Inglés | MEDLINE | ID: mdl-29679241

16.

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

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.

PLoS Genet ; 11(3): e1005076, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25757221

17.

Familial chilblain lupus due to a gain-of-function mutation in STING.

König, Nadja; Fiehn, Christoph; Wolf, Christine; Schuster, Max; Cura Costa, Emanuel; Tüngler, Victoria; Alvarez, Hugo Ariel; Chara, Osvaldo; Engel, Kerstin; Goldbach-Mansky, Raphaela; Günther, Claudia; Lee-Kirsch, Min Ae.

Ann Rheum Dis ; 76(2): 468-472, 2017 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-27566796

18.

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.

Kind, Barbara; Muster, Britta; Staroske, Wolfgang; Herce, Henry D; Sachse, René; Rapp, Alexander; Schmidt, Franziska; Koss, Sarah; Cardoso, M Cristina; Lee-Kirsch, Min Ae.

Hum Mol Genet ; 23(22): 5950-60, 2014 Nov 15.

Artículo en Inglés | MEDLINE | ID: mdl-24986920

19.

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation.

Meinhardt, Andrea; Ramos, Paula C; Dohmen, R Jürgen; Lucas, Nadja; Lee-Kirsch, Min Ae; Becker, Benjamin; de Laffolie, Jan; Cunha, Tomás; Niehues, Tim; Salzer, Ulrich; Yoshimi, Ayami; Erlacher, Miriam; Peters, Anke M J; Ehl, Stephan; Strahm, Brigitte; Speckmann, Carsten.

J Clin Immunol ; 41(7): 1664-1667, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34131834

20.

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

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.

Rheumatology (Oxford) ; 60(4): e136-e138, 2021 04 06.

Artículo en Inglés | MEDLINE | ID: mdl-33200187

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