Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Autor: Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne ^†, Ehl, Stephan ^{†, *}

Publikováno v: In The Lancet Haematology February 2024 11(2):e114-e126

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing

Autor: Rensing-Ehl, Anne, Lorenz, Myriam Ricarda, Führer, Marita, Willenbacher, Wolfgang, Willenbacher, Ella, Sopper, Sieghart, Abinun, Mario, Maccari, Maria Elena, König, Christoph, Haegele, Pauline, Fuchs, Sebastian, Castro, Carla, Kury, Patrick, Pelle, Olivier, Klemann, Christian, Heeg, Maximilian, Thalhammer, Julian, Wegehaupt, Oliver, Fischer, Marco, Goldacker, Sigune, Schulte, Björn, Biskup, Saskia, Chatelain, Philippe, Schuster, Volker, Warnatz, Klaus, Grimbacher, Bodo, Meinhardt, Andrea, Holzinger, Dirk, Oommen, Prasad Thomas, Hinze, Tanja, Hebart, Holger, Seeger, Karlheinz, Lehmberg, Kai, Leahy, Timothy Ronan, Claviez, Alexander, Vieth, Simon, Schilling, Freimut H., Fuchs, Ilka, Groß, Miriam, Rieux-Laucat, Frederic, Magerus, Aude, Speckmann, Carsten, Schwarz, Klaus, Ehl, Stephan

Publikováno v: In The Journal of Allergy and Clinical Immunology January 2024 153(1):297-308

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency

Autor: Jauch, Annaïse J., Bignucolo, Olivier, Seki, Sayuri, Ghraichy, Marie, Delmonte, Ottavia M., von Niederhäusern, Valentin, Higgins, Rebecca, Ghosh, Adhideb, Nishizawa, Masako, Tanaka, Mariko, Baldrich, Adrian, Köppen, Julius, Hirsiger, Julia R., Hupfer, Robin, Ehl, Stephan, Rensing-Ehl, Anne, Hopfer, Helmut, Prince, Spasenija Savic, Daley, Stephen R., Marquardsen, Florian A., Meyer, Benedikt J., Tamm, Michael, Daikeler, Thomas D., Diesch, Tamara, Kühne, Thomas, Helbling, Arthur, Berkemeier, Caroline, Heijnen, Ingmar, Navarini, Alexander A., Trück, Johannes, de Villartay, Jean-Pierre, Oxenius, Annette, Berger, Christoph T., Hess, Christoph, Notarangelo, Luigi D., Yamamoto, Hiroyuki, Recher, Mike

Publikováno v: In The Journal of Allergy and Clinical Immunology August 2023 152(2):500-516

AKT activity orchestrates marginal zone B cell development in mice and humans

Autor: Eva-Maria Cox, Mohamed El-Behi, Stefanie Ries, Johannes F. Vogt, Vivien Kohlhaas, Thomas Michna, Benoît Manfroi, Mona Al-Maarri, Florian Wanke, Boaz Tirosh, Corinne Pondarre, Harry Lezeau, Nir Yogev, Romy Mittenzwei, Marc Descatoire, Sandra Weller, Jean-Claude Weill, Claude-Agnès Reynaud, Pierre Boudinot, Luc Jouneau, Stefan Tenzer, Ute Distler, Anne Rensing-Ehl, Christoph König, Julian Staniek, Marta Rizzi, Aude Magérus, Frederic Rieux-Laucat, F. Thomas Wunderlich, Nadine Hövelmeyer, Simon Fillatreau

Publikováno v: Cell Reports, Vol 42, Iss 4, Pp 112378- (2023)

Summary: The signals controlling marginal zone (MZ) and follicular (FO) B cell development remain incompletely understood. Here, we show that AKT orchestrates MZ B cell formation in mice and humans. Genetic models that increase AKT signaling in B cel

Externí odkaz: https://doaj.org/article/92cc14fd0e5540159395986a3869f5d7

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