Genetic CD21 deficiency is associated with hypogammaglobulinemia

by Thiel, Jens, MD, Kimmig, Lucas, MD, Salzer, Ulrich, MD, Grudzien, Magdalena, PhD, Lebrecht, Dirk, PhD, Hagena, Tina, Draeger, Ruth, Völxen, Nadine, MSc, Bergbreiter, Astrid, MSc, Jennings, Stephanie, PhD, Gutenberger, Sylvia, Aichem, Annette, PhD, Illges, Harald, PhD, Hannan, Jonathan P., PhD, Kienzler, Anne-Kathrin, MSc, Rizzi, Marta, MD, PhD, Eibel, Hermann, PhD, Peter, Hans-Hartmut, MD, Warnatz, Klaus, MD, Grimbacher, Bodo, MD, Rump, Jörg-Andres, MD, Schlesier, Michael, PhD
Published in Journal of allergy and clinical immunology

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

by Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd
Published in Human molecular genetics

Deep learning outperformed 136 of 157 dermatologists in a head-to-head dermoscopic melanoma image classification task

by Brinker, Titus J., Hekler, Achim, Enk, Alexander H., Klode, Joachim, Hauschild, Axel, Berking, Carola, Schilling, Bastian, Haferkamp, Sebastian, Schadendorf, Dirk, Holland-Letz, Tim, von Kalle, Christof, Sirokay, Judith, Albrecht, Magarete, Chorti, Eleftheria, Dith, Anna, Drusio, Christina, Giese, Nina, Griewank, Klaus, Hallasch, Sandra, Hanhart, Zdenka, Herz, Saskia, Hohaus, Katja, Jansen, Philipp, Jockenhöfer, Finja, Kanaki, Theodora, Leonhard, Katja, Matei, Liliana, Olischewski, Alexandra, Placke, Jan-Malte, Raub, Simon, Salva, Katrin, Sody, Elsa, Steingrube, Nadine, Ugurel, Selma, Zaremba, Anne, Gebhardt, Christoffer, Booken, Nina, Buder-Bakhaya, Kristina, Bokor-Billmann, Therezia, Enk, Alexander, Hänßle, Holger, Salzmann, Martin, Schank, Timo, Bohne, Ann-Sophie, Egberts, Friederike, Ewald, Benjamin, Falkvoll, Sandra, Gerdes, Sascha, Harde, Viola, Hauschild, Axel, Jost, Marion, Kosova, Katja, Messinger, Laetitia, Metzner, Malte, Scheller, Natalie, Schwarz, Thomas, Stölzl, Dora, Thielking, Federieke, Tomaschewski, Elena, Wehkamp, Ulrike, Wiedow, Oliver, Bender-Säbelkampf, Sophia, Horbrügger, Marc, Karoglan, Ante, Kraas, Luise, Geraud, Cyrill, Koch, Philipp, Linke, Miriam, Maurier, Nolwenn, Müller, Verena, Thomas, Benjamin, Utikal, Jochen Sven, Alamri, Ali Saeed M., Baczako, Andrea, Berking, Carola, Betke, Matthias, Haas, Carolin, Hartmann, Daniela, Kilian, Katharina, Krammer, Sebastian, Lapczynski, Natalie Lidia, Nasifoglu, Suzan, Ruini, Cristel, Wolff, Hans, Achatz, Birgit, Bergbreiter, Astrid, Drexler, Konstantin, Halupczok, Anna, Hegemann, Marie, Dinauer, Verena, Maagk, Maria, Mickler, Marion, Philipp, Biance, Wittmann, Constanze, Gesierich, Anja, Glutsch, Valerie, Kahlert, Katrin, Kerstan, Andreas, Schilling, Bastian, Schrüfer, Philipp
Published in European journal of cancer (1990)

Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study

by Hebestreit, Helge, Zeidler, Cornelia, Schippers, Christopher, de Zwaan, Martina, Deckert, Jürgen, Heuschmann, Peter, Krauth, Christian, Bullinger, Monika, Berger, Alexandra, Berneburg, Mark, Brandstetter, Lilly, Deibele, Anna, Dieris-Hirche, Jan, Graessner, Holm, Gündel, Harald, Herpertz, Stephan, Heuft, Gereon, Lapstich, Anne-Marie, Lücke, Thomas, Maisch, Tim, Mundlos, Christine, Petermann-Meyer, Andrea, Müller, Susanne, Ott, Stephan, Pfister, Lisa, Quitmann, Julia, Romanos, Marcel, Rutsch, Frank, Schaubert, Kristina, Schubert, Katharina, Schulz, Jörg B, Schweiger, Susann, Tüscher, Oliver, Ungethüm, Kathrin, Wagner, Thomas O F, Haas, Kirsten
Published in Orphanet journal of rare diseases

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

by Salzer, Ulrich, Bacchelli, Chiara, Buckridge, Sylvie, Pan-Hammarström, Qiang, Jennings, Stephanie, Lougaris, Vassilis, Bergbreiter, Astrid, Hagena, Tina, Birmelin, Jennifer, Plebani, Alessandro, Webster, A. David B., Peter, Hans-Hartmut, Suez, Daniel, Chapel, Helen, McLean-Tooke, Andrew, Spickett, Gavin P., Anover-Sombke, Stephanie, Ochs, Hans D., Urschel, Simon, Belohradsky, Bernd H., Ugrinovic, Sanja, Kumararatne, Dinakantha S., Lawrence, Tatiana C., Holm, Are M., Franco, Jose L., Schulze, Ilka, Schneider, Pascal, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Thrasher, Adrian J., Gaspar, H. Bobby, Grimbacher, Bodo
Published in Blood

Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation

by Bergbreiter, Astrid, Jaeger, Teresa, Karle, Antje, Bitzinger, Diane, Ettl, Tobias, Spanier, Gerrit, Jägle, Herbert, Neu, Reiner, Söder, Yorick, Evert, Matthias, Reichert, Torsten E., Berneburg, Mark, Brochhausen, Christoph, Schreml, Julia, Fliegauf, Manfred, Salzer, Ulrich, Redel, Andreas, Schreml, Stephan
Published in European journal of medical genetics

Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency

by Mohammadi, Javad, Liu, Chonghai, Aghamohammadi, Asghar, Bergbreiter, Astrid, Du, Likun, Lu, Jiayi, Rezaei, Nima, Amirzargar, Ali Akbar, Moin, Mostafa, Salzer, Ulrich, Pan-Hammarström, Qiang, Hammarström, Lennart
Published in Journal of clinical immunology

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

by Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd
Published in Human molecular genetics