Universität zu Köln

Journal Article

Ammann, Sandra, Fuchs, Sebastian, Martin-Martin, Lydia, Castro, Carla N., Spielberger, Benedikt ORCID: 0000-0002-0300-0730, Klemann, Christian, Elling, Roland, Heeg, Maximilian, Speckmann, Carsten, Hainmann, Ina, Kaiser-Labusch, Petra, Horneff, Gerd, Thalhammer, Julian, Bredius, Robbert G., zur Stadt, Udo, Lehmberg, Kai, Fuchs, Ilka, von Spee-Mayer, Caroline ORCID: 0000-0002-0560-7915, Henneke, Philipp and Ehl, Stephan (2020). Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies. J. Allergy Clin. Immunol., 145 (1). S. 434 - 438. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6825

Ammann, Sandra ORCID: 0000-0003-0385-1890, Lehmberg, Kai, zur Stadt, Udo, Klemann, Christian ORCID: 0000-0002-5639-8690, Bode, Sebastian F. N., Speckmann, Carsten ORCID: 0000-0002-6217-1556, Janka, Gritta, Wustrau, Katharina, Rakhmanov, Mirzokhid, Fuchs, Ilka, Hennies, Hans C. and Ehl, Stephan (2017). Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. J. Clin. Immunol., 37 (8). S. 770 - 781. NEW YORK: SPRINGER/PLENUM PUBLISHERS. ISSN 1573-2592

Ammann, Sandra ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). S. 997 - 1007. WASHINGTON: AMER SOC HEMATOLOGY. ISSN 1528-0020

Hackmann, Yvonne, Graham, Stephen C., Ehl, Stephan ORCID: 0000-0002-9265-2721, Hoening, Stefan, Lehmberg, Kai, Arico, Maurizio ORCID: 0000-0002-1908-6671, Owen, David J. and Griffiths, Gillian M. (2013). Syntaxin binding mechanism and disease-causing mutations in Munc18-2. Proc. Natl. Acad. Sci. U. S. A., 110 (47). S. E4482 - 10. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

Klemann, Christian ORCID: 0000-0002-5639-8690, Pannicke, Ulrich, Morris-Rosendahl, Deborah J., Vlantis, Katerina, Rizzi, Marta, Uhlig, Holm, Vraetz, Thomas, Speckmann, Carsten ORCID: 0000-0002-6217-1556, Strahm, Brigitte, Pasparakis, Manolis ORCID: 0000-0002-9870-0966, Schwarz, Klaus, Ehl, Stephan and Rohr, Jan C. (2016). Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin. Immunol., 164. S. 52 - 57. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1521-7035

Maccari, Maria Elena, Fuchs, Sebastian, Kury, Patrick, Andrieux, Geoffroy, Volkl, Simon ORCID: 0000-0003-2193-3048, Bengsch, Bertram ORCID: 0000-0003-2552-740X, Lorenz, Myriam Ricarda, Heeg, Maximilian, Rohr, Jan, Jagle, Sabine, Castro, Carla N., Gross, Miriam, Warthorst, Ursula, Koenig, Christoph, Fuchs, Ilka, Speckmann, Carsten, Thalhammer, Julian ORCID: 0000-0002-0226-1955, Kapp, Friedrich G., Seidel, Markus G., Duckers, Gregor, Schoenberger, Stefan, Schuetz, Catharina, Fuhrer, Marita, Kobbe, Robin, Holzinger, Dirk, Klemann, Christian ORCID: 0000-0002-5639-8690, Smisek, Petr, Owens, Stephen, Horneff, Gerd, Kolb, Reinhard, Naumann-Bartsch, Nora, Miano, Maurizio ORCID: 0000-0002-9816-1704, Staniek, Julian, Rizzi, Marta ORCID: 0000-0002-5153-6089, Kalina, Tomas ORCID: 0000-0003-4475-2872, Schneider, Pascal, Erxleben, Anika, Backofen, Rolf, Ekici, Arif, Niemeyer, Charlotte M., Warnatz, Klaus, Grimbacher, Bodo, Eibel, Hermann, Mackensen, Andreas, Frei, Andreas Philipp, Schwarz, Klaus, Boerries, Melanie, Ehl, Stephan ORCID: 0000-0002-9265-2721 and Rensing-Ehl, Anne (2021). A distinct CD38(+)CD45RA(+) population of CD4(+), CD8(+), and double-negative T cells is controlled by FAS. J. Exp. Med., 218 (2). NEW YORK: ROCKEFELLER UNIV PRESS. ISSN 1540-9538

Martin-Martin, Lydia, Alonso-Martinez, Maria, Delgado-Mingo, Nuria, Astigarraga, Itziar, Ehl, Stephan, Ammann, Sandra, Hennies, Hans-Christian, Gazquez, Juan Francisco, Rodriguez-Sainz, Carmen and Gil-Herrera, Juana (2015). PRF1 MUTATION VERSUS PERFORIN EXHAUSTION: TWO DIFFERENT SETTINGS FOR HLH DEVELOPMENT. Pediatr. Blood Cancer, 62. S. S132 - 2. HOBOKEN: WILEY-BLACKWELL. ISSN 1545-5017

Meinhardt, Andrea, Ramos, Paula C., Dohmen, R. Juergen, Lucas, Nadja, Lee-Kirsch, Min Ae, Becker, Benjamin, de Laffolie, Jan, Cunha, Tomas, Niehues, Tim, Salzer, Ulrich, Yoshimi, Ayami, Erlacher, Miriam, Peters, Anke M. J., Ehl, Stephan, Strahm, Brigitte and Speckmann, Carsten (2021). Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation. J. Clin. Immunol., 41 (7). S. 1664 - 1668. NEW YORK: SPRINGER/PLENUM PUBLISHERS. ISSN 1573-2592

Ogishi, Masato ORCID: 0000-0003-2421-7389, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng ORCID: 0000-0002-6129-567X, Rinchai, Darawan ORCID: 0000-0001-8851-7730, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying ORCID: 0000-0002-9449-3672, Zhang, Qian, Bohlen, Jonathan, Puel, Anne ORCID: 0000-0003-2603-0323, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico ORCID: 0000-0002-1927-7072, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan ORCID: 0000-0002-4838-0407, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca ORCID: 0000-0001-5821-3963, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent and Boisson-Dupuis, Stephanie (2022). Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency. J. Exp. Med., 219 (10). NEW YORK: ROCKEFELLER UNIV PRESS. ISSN 1540-9538