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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 Comprehensive clinical phenotype, genotype and therapy in Yao syndrome姚证综合临床表型、基因型及治疗
Nomani, Hafsa; Wu, Song; Saif, Ashmia; Hwang, Frank; Metzger, Jane; Navetta-Modrov, Brianne; Gorevic, Peter D.; Aksentijevich, Ivona; Yao, Qingping 分享 收藏 A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptorsA20单倍不足会干扰免疫稳态，并通过允许的抗原受体驱动淋巴细胞的转化Schultheiss, Christoph; Paschold, Lisa; Mohebiany, Alma Nazlie; Escher, Moritz; Kattimani, Yogita Mallu; Mueller, Melanie; Schmidt-Barbo, Paul; Mensa-Vilaro, Anna; Arostegui, Juan Ignacio; Boursier, Guilaine; de Moreuil, Claire; Hautala, Timo; Willscher, Edith; Jonas, Hanna; Chinchuluun, Namuun; Grosser, Bianca; Markl, Bruno; Klapper, Wolfram; Oommen, Prasad Thomas; Goessling, Katharina; Hoffmann, Katrin; Tiegs, Gisa; Czernilofsky, Felix; Dietrich, Sascha; Freeman, Alexandra; Schwartz, Daniella M.; Waisman, Ari; Aksentijevich, Ivona; Binder, Mascha 分享 收藏 分享 收藏 Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF InhibitorYang, Zhaohui; Tao, Panfeng; Han, Xu; Kozlova, Anna; He, Tingyan; Volchkov, Egor; Nesterenko, Zoya; Pershin, Dmitryi; Raykina, Elena; Fatkhudinov, Timur; Korobeynikova, Anastasia; Aksentijevich, Ivona; Yang, Jun; Shcherbina, Anna; Zhou, Qing; Yu, Xiaomin 分享 收藏 分享 收藏 A unified metric of human immune health人体免疫健康的统一度量Sparks, Rachel; Rachmaninoff, Nicholas; Lau, William W.; Hirsch, Dylan C.; Bansal, Neha; Martins, Andrew J.; Chen, Jinguo; Liu, Candace C.; Cheung, Foo; Failla, Laura E.; Biancotto, Angelique; Fantoni, Giovanna; Sellers, Brian A.; Chawla, Daniel G.; Howe, Katherine N.; Mostaghimi, Darius; Farmer, Rohit; Kotliarov, Yuri; Calvo, Katherine R.; Palmer, Cindy; Daub, Janine; Foruraghi, Ladan; Kreuzburg, Samantha; Treat, Jennifer D.; Urban, Amanda K.; Jones, Anne; Romeo, Tina; Deuitch, Natalie T.; Moura, Natalia Sampaio; Weinstein, Barbara; Moir, Susan; Ferrucci, Luigi; Barron, Karyl S.; Aksentijevich, Ivona; Kleinstein, Steven H.; Townsley, Danielle M.; Young, Neal S.; Frischmeyer-Guerrerio, Pamela A.; Uzel, Gulbu; Pinto-Patarroyo, Gineth Paola; Cudrici, Cornelia D.; Hoffmann, Patrycja; Stone, Deborah L.; Ombrello, Amanda K.; Freeman, Alexandra F.; Zerbe, Christa S.; Kastner, Daniel L.; Holland, Steven M.; Tsang, John S. 分享 收藏 Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency双等位基因人SHARPIN功能丧失诱导自身炎症和免疫缺陷Oda, Hirotsugu; Manthiram, Kalpana; Chavan, Pallavi Pimpale; Rieser, Eva; Veli, Oenay; Kaya, Oeykue; Rauch, Charles; Nakabo, Shuichiro; Kuehn, Hye Sun; Swart, Mariel; Wang, Yanli; Celik, Nisa Ilgim; Molitor, Anne; Ziaee, Vahid; Movahedi, Nasim; Shahrooei, Mohammad; Parvaneh, Nima; Alipour-Olyei, Nasrin; Carapito, Raphael; Xu, Qin; Preite, Silvia; Beck, David B.; Chae, Jae Jin; Nehrebecky, Michele; Ombrello, Amanda K.; Hoffmann, Patrycja; Romeo, Tina; Deuitch, Natalie T.; Matthiasardottir, Brynja; Mullikin, James; Komarow, Hirsh; Stoddard, Jennifer; Niemela, Julie; Dobbs, Kerry; Sweeney, Colin L.; Anderton, Holly; Lawlor, Kate E.; Yoshitomi, Hiroyuki; Yang, Dan; Boehm, Manfred; Davis, Jeremy; Mudd, Pamela; Randazzo, Davide; Tsai, Wanxia Li; Gadina, Massimo; Kaplan, Mariana J.; Toguchida, Junya; Mayer, Christian T.; Rosenzweig, Sergio D.; Notarangelo, Luigi D.; Iwai, Kazuhiro; Silke, John; Schwartzberg, Pamela L.; Boisson, Bertrand; Casanova, Jean-Laurent; Bahram, Seiamak; Rao, Anand Prahalad; Peltzer, Nieves; Walczak, Henning; Lalaoui, Najoua; Aksentijevich, Ivona; Kastner, Daniel L. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 A gain-of-function variation in PLCG1 causes a new immune dysregulation diseaseTao, Panfeng; Han, Xu; Wang, Qintao; Wang, Shihao; Zhang, Jiahui; Liu, Lin; Fan, Xiaorui; Liu, Chenlu; Liu, Meng; Guo, Li; Lee, Pui Y.; Aksentijevich, Ivona; Zhou, Qing 分享 收藏 分享 收藏 Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2Chen, Liang; Mamutova, Anna; Kozlova, Anna; Latysheva, Elena; Evgeny, Frolov; Latysheva, Tatiana; Savostyanov, Kirill; Pushkov, Alexander; Zhanin, Ilya; Raykina, Elena; Kurnikova, Maria; Mersiyanova, Irina; Platt, Craig D.; Jee, Hyuk; Brodeur, Kailey; Du, Yan; Liu, Meng; Weiss, Aaron; Schulert, Grant S.; Rodriguez-Smith, Jackeline; Hershfield, Michael S.; Aksentijevich, Ivona; Zhou, Qing; Nigrovic, Peter A.; Shcherbina, Anna; Alexeeva, Ekaterina; Lee, Pui Y. 分享 收藏 T cell repertoire breadth is associated with the number of acute respiratory infections in the LoewenKIDS birth cohortPaschold, Lisa; Gottschick, Cornelia; Langer, Susan; Klee, Bianca; Diexer, Sophie; Aksentijevich, Ivona; Schultheiss, Christoph; Purschke, Oliver; Riese, Peggy; Trittel, Stephanie; Haase, Roland; Dressler, Frank; Eberl, Wolfgang; Huebner, Johannes; Strowig, Till; Guzman, Carlos A.; Mikolajczyk, Rafael; Binder, Mascha 分享 收藏 分享 收藏 
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