未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry 病例报告：激活的PI3-kinase-δ综合征与卵巢恶性肿瘤：来自欧洲ESID-APDS注册登记的病例系列 Esposto, Maria Pia; Mahlaoui, Nizar; Abolhassani, Hassan; Van Aerde, Koen; Cesaro, Simone; Chandra, Anita; Ehl, Stephan; Kracker, Sven; Suarez, Felipe; Barlogis, Vincent; Parisi, Alice; Maccari, Maria Elena; Chinello, Matteo 分享 收藏
A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13 Noonan综合征13型14岁女孩免疫缺陷和免疫失调的新描述 Tabassum, Saira; Gruen, Sarah; Molloy, Ben; Jones, Eppie; Buckley, Patrick G.; Amet, Rebecca; Mcelligott, Anthony M.; Doherty, Derek G.; Ehl, Stephan; Leahy, Timothy Ronan 分享 收藏
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study leniolisib (CDZ173) 与护理标准对活化磷酸肌醇3-激酶 δ (PI3Kδ) 综合征 (APDS) 个体的呼吸道感染率和血清免疫球蛋白M (IgM) 水平的比较疗效: 一项外部对照研究 Whalen, John; Chandra, Anita; Kracker, Sven; Ehl, Stephan; Seidel, Markus G.; Gulas, Ioana; Dron, Louis; Velummailum, Russanthy; Nagamuthu, Chenthila; Liu, Sichen; Nolthenius, Joanne Tutein; Maccari, Maria Elena; European Soc for Immunodeficiencies ESID APDS Registry Working Party 分享 收藏
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease Molitor, Anne; Lederle, Alexandre; Radosavljevic, Mirjana; Sapuru, Vinay; Zavorka Thomas, Megan E.; Yang, Jianying; Shirin, Mahsa; Collin-Bund, Virginie; Jerabkova-Roda, Katerina; Miao, Zhichao; Bernard, Alice; Rolli, Veronique; Grenot, Pierre; Castro, Carla Noemi; Rosenzwajg, Michelle; Lewis, Elyssa G.; Person, Richard; Esperon-Moldes, Uxia-Saraiva; Kaare, Milja; Nokelainen, Pekka T.; Batzir, Nurit Assia; Hoffer, Gal Zaks; Paul, Nicodeme; Stemmelen, Tristan; Naegely, Lydie; Hanauer, Antoine; Bibi-Triki, Sabrina; Gruen, Sarah; Jung, Sophie; Busnelli, Ignacio; Tripolszki, Kornelia; Al-Ali, Ruslan; Ordonez, Natalia; Bauer, Peter; Song, Eunkyung; Zajo, Kristin; Partida-Sanchez, Santiago; Robledo-Avila, Frank; Kumanovics, Attila; Louzoun, Yoram; Hirschler, Aurelie; Pichot, Angelique; Toker, Ori; Mejia, Cesar Andres Munoz; Parvaneh, Nima; Knapp, Esther; Hersh, Joseph H.; Kenney, Heather; Delmonte, Ottavia M.; Notarangelo, Luigi D.; Goetz, Jacky G.; Kahwash, Samir B.; Carapito, Christine; Bajwa, Rajinder P. S.; Thomas, Caroline; Ehl, Stephan; Isidor, Bertrand; Carapito, Raphael; Abraham, Roshini S.; Hite, Richard K.; Marcus, Nufar; Bertoli-Avella, Aida; Bahram, Seiamak 分享 收藏
分享 收藏
Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia Graafen, Lea; Heinze, Annekathrin; Albinger, Nawid; Salzmann-Manrique, Emilia; Ganss, Franziska; Huenecke, Sabine; Cappel, Claudia; Woelke, Sandra; Donath, Helena; Trischler, Jordis; Theilen, Till-Martin; Heller, Christine; Koenigs, Christoph; Ehl, Stephan; Bader, Peter; Klingebiel, Thomas; Klusmann, Jan-Henning; Zielen, Stefan; Schubert, Ralf; Ullrich, Evelyn 分享 收藏
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect (vol 221, e20221122, 2024) Koegl, Tamara; Chang, Hsin-Fang; Staniek, Julian; Chiang, Samuel C. C.; Thoulass, Gudrun; Lao, Jessica; Weissert, Kristoffer; Dettmer-Monaco, Viviane; Geiger, Kerstin; Manna, Paul T.; Beziat, Vivien; Momenilandi, Mana; Tu, Szu-Min; Keppler, Selina J.; Pattu, Varsha; Wolf, Philipp; Kupferschmid, Laurence; Tholen, Stefan; Covill, Laura E.; Ebert, Karolina; Straub, Tobias; Gross, Miriam; Gather, Ruth; Engel, Helena; Salzer, Ulrich; Schell, Christoph; Maier, Sarah; Lehmberg, Kai; Cornu, Tatjana I.; Pircher, Hanspeter; Shahrooei, Mohammad; Parvaneh, Nima; Elling, Roland; Rizzi, Marta; Bryceson, Yenan T.; Ehl, Stephan; Aichele, Peter; Ammann, Sandra 分享 收藏
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect Koegl, Tamara; Chang, Hsin-Fang; Staniek, Julian; Chiang, Samuel C. C.; Thoulass, Gudrun; Lao, Jessica; Weissert, Kristoffer; Dettmer-Monaco, Viviane; Geiger, Kerstin; Manna, Paul T.; Beziat, Vivien; Momenilandi, Mana; Tu, Szu-Min; Keppler, Selina J.; Pattu, Varsha; Wolf, Philipp; Kupferschmid, Laurence; Tholen, Stefan; Covill, Laura E.; Ebert, Karolina; Straub, Tobias; Gross, Miriam; Gather, Ruth; Engel, Helena; Salzer, Ulrich; Schell, Christoph; Maier, Sarah; Lehmberg, Kai; Cornu, Tatjana I.; Pircher, Hanspeter; Shahrooei, Mohammad; Parvaneh, Nima; Elling, Roland; Rizzi, Marta; Bryceson, Yenan T.; Ehl, Stephan; Aichele, Peter; Ammann, Sandra 分享 收藏
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity Baumgartner, Francis; Bamopoulos, Stefanos A.; Faletti, Laura; Hsiao, Hsiang-Jung; Holz, Maximilian; Gonzalez-Menendez, Irene; Boldo, Llorenc; Horne, Arik; Gosavi, Sanket; Oezerdem, Ceren; Singh, Nikita; Liebig, Sven; Ramamoorthy, Senthilkumar; Lehmann, Malte; Demel, Uta; Kuehl, Anja A.; Wartewig, Tim; Ruland, Juergen; Wunderlich, Frank T.; Schick, Markus; Walther, Wolfgang; Rose-John, Stefan; Haas, Simon; Quintanilla-Martinez, Leticia; Feske, Stefan; Ehl, Stephan; Glauben, Rainer; Keller, Ulrich 分享 收藏
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study Haegele, 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, Joerg; 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 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
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study Fischer, Marco; Olbrich, Peter; Hadjadj, Jerome; Aumann, Volker; Bakhtiar, Shahrzad; Barlogis, Vincent; von Bismarck, Philipp; Bloomfield, Marketa; Booth, Claire; Buddingh, Emmeline P.; Cagdas, Deniz; Castelle, Martin; Chan, Alice Y.; Chandrakasan, Shanmuganathan; Chetty, Kritika; Cougoul, Pierre; Crickx, Etienne; Dara, Jasmeen; Deya-Martinez, Angela; Farmand, Susan; Formankova, Renata; Gennery, Andrew R.; Gonzalez-Granado, Luis Ignacio; Hagin, David; Hanitsch, Leif Gunnar; Hanzlikova, Jana; Hauck, Fabian; Ivorra-Cortes, Jose; Kisand, Kai; Kiykim, Ayca; Koerholz, Julia; Leahy, Timothy Ronan; van Montfrans, Joris; Nademi, Zohreh; Nelken, Brigitte; Parikh, Suhag; Plado, Silvi; Ramakers, Jan; Redlich, Antje; Rieux-Laucat, Frederic; Riviere, Jacques G.; Rodina, Yulia; Roxo Junior, Persio; Salou, Sarah; Schuetz, Catharina; Shcherbina, Anna; Slatter, Mary A.; Touzot, Fabien; Unal, Ekrem; Lankester, Arjan C.; Burns, Siobhan; Seppanen, Mikko R. J.; Neth, Olaf; Albert, Michael H.; Ehl, Stephan; Neven, Benedicte; Speckmann, Carsten 分享 收藏
Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis Dettmer-Monaco, Viviane; Weissert, Kristoffer; Ammann, Sandra; Monaco, Gianni; Lei, Lei; Graessel, Linda; Rhiel, Manuel; Rositzka, Julia; Kaufmann, Masako M.; Geiger, Kerstin; Andrieux, Geoffroy; Lao, Jessica; Thoulass, Gudrun; Schell, Christoph; Boerries, Melanie; Illert, Anna L.; Cornu, Tatjana I.; Ehl, Stephan; Aichele, Peter; Cathomen, Toni 分享 收藏
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing Rensing-Ehl, Anne; Lorenz, Myriam Ricarda; Fueurohrer, Marita; Willenbacher, Wolfgang; Willenbacher, Ella; Sopper, Sieghart; Abinun, Mario; Maccari, Maria Elena; Koeuronig, Christoph; Haegele, Pauline; Fuchs, Sebastian; Castro, Carla; Kury, Patrick; Pelle, Olivier; Klemann, Christian; Heeg, Maximilian; Thalhammer, Julian; Wegehaupt, Oliver; Fischer, Marco; Goldacker, Sigune; Schulte, Bjoeurorn; 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 分享 收藏
分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png)
.png){kind=icon}
分享.png){kind=icon}
收藏