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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia Soomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgul, Gulfirde; von Bernuth, Horst; Bloomfield, Marketa; Brodszki, Nicholas; Candotti, Fabio; Forster-Waldl, Elisabeth; Freiberger, Tomas; Gizewska, Maria; Klocperk, Adam; Koelsch, Uwe; Nichols, Kim E.; Krueger, Renate; Oak, Ninad; Pac, Malorzata; Prader, Seraina; Schmiegelow, Kjeld; Sediva, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Truck, Johannes 分享 收藏
ADA2 is a lysosomal deoxyadenosine deaminase acting on DNA involved in regulating TLR9-mediated immune sensing of DNA Greiner-Tollersrud, Ole Kristian; Krausz, Mate; Boehler, Vincent; Polyzou, Aikaterini; Seidl, Maximilian; Spahiu, Ambra; Abdullah, Zeinab; Andryka-Cegielski, Katarzyna; Dominick, Felix Immunuel; Huebscher, Katrin; Goschin, Andreas; Smulski, Cristian R.; Trompouki, Eirini; Link, Regina; Ebersbach, Hilmar; Srinivas, Honnappa; Marchant, Martine; Sogkas, Georgios; Staab, Dieter; Vagbo, Cathrine; Guerini, Danilo; Baasch, Sebastian; Latz, Eicke; Hartmann, Gunther; Henneke, Philippe; Geiger, Roger; Peng, Xiao P.; Grimbacher, Bodo; Bartok, Eva; Alseth, Ingrun; Warncke, Max; Proietti, Michele 分享 收藏
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JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review Atschekzei, Faranaz; Traidl, Stephan; Carlens, Julia; Schuetz, Katharina; von Hardenberg, Sandra; Elsayed, Abdulwahab; Ernst, Diana; Risser, Linus; Thiele, Thea; Graalmann, Theresa; Raab, Juliana; Baumann, Ulrich; Witte, Torsten; Sogkas, Georgios 分享 收藏
HETEROZYGOUS LOSS-OF-FUNCTION RELA MUTATIONS LEAD TO SYSTEMIC LUPUS ERYTHEMATOSUS OR AUTOINFLAMMATORY SYNDROME 杂合失活性RELA基因突变导致系统性红斑狼疮或自身炎症综合征 Riller, Q.; Barnabei, L.; Rodrigo-Riestra, M.; Stolzenberg, M. C.; Pelle, O.; Delage, L.; Becquard, T.; Courteille, C.; Marchais, M.; De Cevins, C.; Brunaud, C.; Magerus, A.; Luka, M.; Sorin, B.; Boussard, C.; Salomon, R.; Menager, M.; Hie, M.; Neven, B.; Baud, V.; Skokowa, J.; Sogkas, G.; Jamilloux, Y.; Merlin, E.; Belot, A.; Picard, C.; Boursier, G.; Rivere, E.; Georgin-Lavialle, S.; Quartier, P.; Bader-Meunier, B.; Fischer, A.; Miner, J. J.; Rieux-Laucat, F. 分享 收藏
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells 非凋亡FAS信号控制人b细胞中的mTOR激活和滤泡外成熟 Staniek, Julian; Kalina, Tomas; Andrieux, Geoffroy; Boerries, Melanie; Janowska, Iga; Fuentes, Manuel; Diez, Paula; Bakardjieva, Marina; Stancikova, Jitka; Raabe, Jan; Neumann, Julika; Schwenk, Sabine; Arpesella, Leonardo; Stuchly, Jan; Benes, Vladimir; Garcia Valiente, Rodrigo; Fernandez Garcia, Jonatan; Carsetti, Rita; Piano Mortari, Eva; Catala, Albert; de la Calle, Oscar; Sogkas, Georgios; Neven, Benedicte; Rieux-Laucat, Frederic; Magerus, Aude; Neth, Olaf; Olbrich, Peter; Voll, Reinhard E.; Alsina, Laia; Allende, Luis M.; Gonzalez-Granado, Luis I.; Boehler, Chiara; Thiel, Jens; Venhoff, Nils; Lorenzetti, Raquel; Warnatz, Klaus; Unger, Susanne; Seidl, Maximilian; Mielenz, Dirk; Schneider, Pascal; Ehl, Stephan; Rensing-Ehl, Anne; Smulski, Cristian Roberto; Rizzi, Marta 分享 收藏
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Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity 活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较 Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, MattheW S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, Peter; Coulter, Tanya I.; D'Aveni, Maud; Ekwall, Olov; Eric, Zelimir; Eren, Efrem; Fasth, Anders; Frange, Pierre; Fournier, Benjamin; Garcia-Prat, Marina; Gardembas, Martine; Geier, Christoph; Ghosh, Sujal; Goda, Vera; Hammarstrom, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, Renate; Jeziorski, Eric; Levy, Romain; Le Guenno, Guillaume; Lefevre, Guillaume; Lougaris, Vassilios; Marzollo, Antonio; Mahlaoui, Nizar; Malphettes, Marion; Meinhardt, Andrea; Merlin, Etienne; Meyts, Isabelle; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neubert, Jennifer; Neven, Benedicte; Nieters, Alexandra; Nove-Josserand, Raphaele; Oksenhendler, Eric; Ozen, Ahmet; Olbrich, Peter; Perlat, Antoinette; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pacillo, Lucia; Parra-Martinez, Alba; Paschenko, Olga; Pellier, Isabelle; Sefer, Asena Pinar; Plebani, Alessandro; Plantaz, Dominique; Prader, Seraina; Raffray, Loic; Ritterbusch, Henrike; Riviere, Jacques G.; Rivalta, Beatrice; Rusch, Stephan; Sakovich, Inga; Savic, Sinisa; Scheible, Raphael; Schleinitz, Nicolas; Schuetz, Catharina; Schulz, Ansgar; Sediva, Anna; Semeraro, Michaela; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary A.; Sogkas, Georgios; Soler-Palacin, Pere; Speckmann, Carsten; Stephan, Jean-Louis; Suarez, Felipe; Tommasini, Alberto; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan 分享 收藏
MAGT1 Deficiency Dysregulates Platelet Cation Homeostasis and Accelerates Arterial Thrombosis and Ischemic Stroke in Mice Gotru, Sanjeev Kiran; Mammadova-Bach, Elmina; Sogkas, Georgios; Schuhmann, Michael K.; Schmitt, Karen; Kraft, Peter; Herterich, Sabine; Mamtimin, Medina; Pinarci, Akif; Beck, Sarah; Stritt, Simon; Han, Chao; Ren, Pengxuan; Freund, Jean-Noel; Klemann, Christian; Ringshausen, Felix C.; Heemskerk, Johan W. M.; Dietrich, Alexander; Nieswandt, Bernhard; Stoll, Guido; Gudermann, Thomas; Braun, Attila 分享 收藏
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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien 分享 收藏
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors Bruns, Luzia; Panagiota, Victoria; von Hardenberg, Sandra; Schmidt, Gunnar; Adriawan, Ignatius Ryan; Sogka, Eleni; Hirsch, Stefanie; Ahrenstorf, Gerrit; Witte, Torsten; Schmidt, Reinhold Ernst; Atschekzei, Faranaz; Sogkas, Georgios 分享 收藏
Therapeutic options for CTLA-4 insufficiency Egg, David; Rump, Ina Caroline; Mitsuiki, Noriko; Rojas-Restrepo, Jessica; Maccari, Maria-Elena; Schwab, Charlotte; Gabrysch, Annemarie; Warnatz, Klaus; Goldacker, Sigune; Patino, Virginia; Wolff, Daniel; Okada, Satoshi; Hayakawa, Seiichi; Shikama, Yoshiaki; Kanda, Kenji; Imai, Kohsuke; Sotomatsu, Manabu; Kuwashima, Makoto; Kamiya, Takahiro; Morio, Tomohiro; Matsumoto, Kazuaki; Mori, Takeshi; Yoshimoto, Yuri; Dybedal, Ingunn; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Lorenz, Hanns-Martin; Sullivan, Kathleen E.; Heimall, Jennifer; Moutschen, Michel; Litzman, Jiri; Recher, Mike; Albert, Michael H.; Hauck, Fabian; Seneviratne, Suranjith; Schmid, Jana Pachlopnik; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Snapper, Scott; Giulino-Roth, Lisa; Svaton, Michael; Platt, Craig D.; Hambleton, Sophie; Neth, Olaf; Gosse, Geraldine; Reinsch, Steffen; Holzinger, Dirk; Kim, Yae-Jean; Bakhtiar, Shahrzad; Atschekzei, Faranaz; Schmidt, Reinhold; Sogkas, Georgios; Chandrakasan, Shanmuganathan; Rae, William; Derfalvi, Beata; Marquart, Hanne Vibeke; Ozen, Ahmet; Kiykim, Ayca; Karakoc-Aydiner, Elif; Kralickova, Pavlina; de Bree, Godelieve; Kiritsi, Dimitra; Seidel, Markus G.; Kobbe, Robin; Dantzer, Jennifer; Alsina, Laia; Armangue, Thais; Lougaris, Vassilios; Agyeman, Philipp; Nystrom, Sofia; Buchbinder, David; Arkwright, Peter D.; Grimbacher, Bodo 分享 收藏
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