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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