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Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease 携带淋巴瘤驱动体细胞突变的扩展T细胞克隆在难治性乳糜泻中积累 Singh, Mandeep; Louie, Raymond H. Y.; Samir, Jerome; Field, Matthew A.; Milthorpe, Claire; Adikari, Thiruni; Mackie, Joseph; Roper, Ellise; Faulks, Megan; Jackson, Katherine J. L.; Calcino, Andrew; Hardy, Melinda Y.; Blombery, Piers; Amos, Timothy G.; Deveson, Ira W.; Wende, Helen Vander; Floor, Stephen N.; Read, Scott A.; Shek, Dmitri; Guerin, Antoine; Ma, Cindy S.; Tangye, Stuart G.; Lenti, Marco V.; Pasini, Alessandra; Ciccocioppo, Rachele; Ahlenstiel, Golo; Suan, Dan; Tye-Din, Jason A.; Goodnow, Christopher C.; Luciani, Fabio 分享 收藏
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders Dale, Russell C.; Mohammad, Shekeeb; Han, Velda X.; Nishida, Hiroya; Goel, Himanshu; Tangye, Stuart G.; Hollway, Georgina; Tantsis, Esther; Gill, Deepak; Patel, Shrujna; Chromatin Immune Brain Grp 分享 收藏
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Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework 使用ClinGen验证框架对原发性抗体缺陷症的基因-疾病关系进行整理 Nieto-Patlan, Alejandro; Ross, Justyne; Mohan, Shruthi; Paczosa, Michelle K.; Soliman, Rasha; Sarmento, Olga; Aliu, Ermal; Thiyagarajan, Lavvina; Chandra, Anita; Picard, Capucine; Warnatz, Klaus; Jolles, Stephen; Lesmana, Harry; Maglione, Paul J.; Platt, Craig D.; Sediva, Anna; Sullivan, Kathleen E.; Zhang, Kejian; Raval, Forum; Tangye, Stuart G.; Abraham, Roshini S. 分享 收藏
Bivalent Omicron BA.1 vaccine booster increases memory B cell breadth and neutralising antibodies against emerging SARS-CoV-2 variants 二价Omicron BA.1疫苗加强剂增加记忆b细胞宽度并中和针对新兴SARS-CoV-2变体的抗体 Shrestha, Lok Bahadur; Tungatt, Katie; Aggarwal, Anupriya; Stubis, Aija; Fewings, Nicole L.; Fichter, Christina; Akerman, Anouschka; Rodrigo, Chaturaka; Tedla, Nicodemus; Lee, Sharon; Lloyd, Andrew R.; Brilot, Fabienne; Britton, Warwick J.; Kelleher, Anthony; Caterson, Ian D.; Douglas, Mark W.; Rockett, Rebecca; Tangye, Stuart G.; Triccas, James A.; Turville, Stuart G.; Sandgren, KerrieJ.; Bull, Rowena A.; Cunningham, Anthony L. 分享 收藏
Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease Gervais, Adrian; Bastard, Paul; Bizien, Lucy; Delifer, Celine; Tiberghien, Pierre; Rodrigo, Chaturaka; Trespidi, Francesca; Angelini, Micol; Rossini, Giada; Lazzarotto, Tiziana; Conti, Francesca; Cassaniti, Irene; Baldanti, Fausto; Rovida, Francesca; Ferrari, Alessandro; Mileto, Davide; Mancon, Alessandro; Abel, Laurent; Puel, Anne; Cobat, Aurelie; Rice, Charles M.; Cadar, Daniel; Schmidt-Chanasit, Jonas; Scheid, Johannes F.; Lemieux, Jacob E.; Rosenberg, Eric S.; Agudelo, Marianna; Tangye, Stuart G.; Borghesi, Alessandro; Durand, Guillaume Andre; Duburcq-Gury, Emilie; Valencia, Braulio M.; Lloyd, Andrew R.; Nagy, Anna; MacDonald, Margaret M.; Simonin, Yannick; Zhang, Shen-Ying; Casanova, Jean-Laurent 分享 收藏
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERIC-mediated monocyte activation 白细胞CBL杂合性丧失患者的自身炎症是由组成型ERIC介导的单核细胞激活引起的 Bohlen, Jonathan; Bagaric, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F.; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A.; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; de la Red, Purena Aguilar; Rice, Gillian I.; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cecile; Masson, Cecile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jeremie; Neehus, Anna-Lena; Erazo-Borras, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudee, Camille; Laine, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S.; Puel, Anne; Tangye, Stuart G.; Andre, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ping; Beziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlene; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J.; Landegren, Nils; Masetti, Riccardo; Huang, Danny T.; Casanova, Jean-Laurent; Bustamante, Jacinta 分享 收藏
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells Arango-Franco, Carlos A.; Ogishi, Masato; Unger, Susanne; Delmonte, Ottavia M.; Orrego, Julio Cesar; Yatim, Ahmad; Velasquez-Lopera, Margarita M.; Zea-Vera, Andres F.; Bohlen, Jonathan; Chbihi, Marwa; Fayand, Antoine; Sanchez, Juan Pablo; Rojas, Julian; Seeleuthner, Yoann; Le Voyer, Tom; Philippot, Quentin; Payne, Kathryn J.; Gervais, Adrian; Erazo-Borras, Lucia, V; Correa-Londono, Luis A.; Cederholm, Axel; Gallon-Duque, Alejandro; Goncalves, Pedro; Doisne, Jean-Marc; Horev, Liran; Charmeteau-de Muylder, Benedicte; Alvarez, Jesus A.; Arboleda, Diana M.; Perez-Zapata, Lizet; Vasquez-Echeverri, Estefania; Moncada-Velez, Marcela; Lopez, Juan A.; Caicedo, Yolanda; Palterer, Boaz; Patino, Pablo J.; Montoya, Carlos J.; Chaldebas, Matthieu; Zhang, Peng; Nguyen, Tina; Ma, Cindy S.; Jeljeli, Mohamed; Alzate, Juan F.; Cabarcas, Felipe; Khan, Taushif; Rinchai, Darawan; Pretet, Jean-Luc; Boisson, Bertrand; Marr, Nico; Ibrahim, Ruba; Molho-Pessach, Vered; Boisson-Dupuis, Stephanie; Kiritsi, Dimitra; Barata, Joao T.; Landegren, Nils; Neven, Benedicte; Abe, Laurent; Lisco, Andrea; Beziat, Vivien; Jouanguy, Emmanuelle; Bustamante, Jacinta; Di Santo, James P.; Tangye, Stuart G.; Notarangelo, Luigi D.; Cheynier, Remi; Natsuga, Ken; Arias, Andres A.; Franco, Jose Luis; Warnatz, Klaus; Casanova, Jean-Laurent; Puel, Anne 分享 收藏
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (vol 44, 170, 2024) Huynh, Aimee; Gray, Paul; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; Mcmanus, Sam; Wainwright, Luke H.; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; Ma, Cindy; Tangye, Stuart G. 分享 收藏
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning 使用氟达拉滨，Treosulfan和基于噻替帕的调理成功进行造血干细胞移植治疗LRBA缺乏症 Shadur, Bella; Nassereddin, Adeeb; Zaidman, Irina; Schejter, Yael Dinur; Even-Or, Ehud; Berkun, Yackov; Meyts, Isabelle; Hmedat, Hatem; Sulaiman, Ashraf; Tangye, Stuart G.; Stepensky, Polina 分享 收藏
Inherited human RelB deficiency impairs innate and adaptive immunity to infection 遗传性人类RelB缺乏症会损害对感染的先天和适应性免疫 Le Voyer, Tom; Renkilaraj, Majistor Raj Luxman Maglorius; Moriya, Kunihiko; Lorenzo, Malena Perez; Nguyen, Tina; Gao, Liwei; Rubin, Tamar; Cederholm, Axel; Ogishi, Masato; Franco, Carlos A. Arango-; Beziat, Vivien; Levy, Romain; Migaud, Melanie; Rapaport, Franck; Itan, Yuval; Deenick, Elissa K.; Cortese, Irene; Lisco, Andrea; Boztug, Kaan; Abel, Laurent; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Frosk, Patrick; Ma, Cindy S.; Landegren, Nils; Celmeli, Fatih; Casanova, Jean- Laurent; Tangye, Stuart G.; Puel, Anne 分享 收藏
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries Huynh, Aimee; Gray, Paul E.; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; Wainwright, Luke H.; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; Ma, Cindy S.; Tangye, Stuart G. 分享 收藏
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Helper T cell immunity in humans with inherited CD4 deficiency Guerin, Antoine; Moncada-Velez, Marcela; Jackson, Katherine; Ogishi, Masato; Rosain, Jeremie; Mancini, Mathieu; Langlais, David; Nunez, Andrea; Webster, Samantha; Goyette, Jesse; Khan, Taushif; Marr, Nico; Avery, Danielle T.; Rao, Geetha; Waterboer, Tim; Michels, Birgitta; Neves, Esmeralda; Morais, Catia Iracema; London, Jonathan; Mestrallet, Stephanie; Maire, Pierre Quartier Dit; Neven, Benedicte; Rapaport, Franck; Seeleuthner, Yoann; Lev, Atar; Simon, Amos J.; Montoya, Jorge; Barel, Ortal; Gomez-Rodriguez, Julio; Orrego, Julio C.; L'Honneur, Anne-Sophie; Soudee, Camille; Rojas, Jessica; Velez, Alejandra C.; Sereti, Irini; Terrier, Benjamin; Marin, Nancy; Garcia, Luis F.; Abel, Laurent; Boisson-Dupuis, Stephanie; Reis, Joel; Marinho, Antonio; Lisco, Andrea; Faria, Emilia; Goodnow, Christopher C.; Vasconcelos, Julia; Beziat, Vivien; Ma, Cindy S.; Somech, Raz; Casanova, Jean-Laurent; Bustamante, Jacinta; Franco, Jose Luis; Tangye, Stuart G. 分享 收藏
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome AICDA中的一种新的杂合变体会损害人b细胞中的Ig类别转换和体细胞超突变，并与常染色体显性HIGM2综合征相关 Della Mina, Erika; Jackson, Katherine J. L.; Crawford, Alexander J. I.; Faulks, Megan L.; Pathmanandavel, Karrnan; Acquarola, Nicolino; O'Sullivan, Michael; Kerre, Tessa; Naesens, Leslie; Claes, Karlien; Goodnow, Christopher C.; Haerynck, Filomeen; Kracker, Sven; Meyts, Isabelle; D'Orsogna, Lloyd J.; Ma, Cindy S.; Tangye, Stuart G. 分享 收藏
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