日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency

RAG1/2缺陷中抗IFN-α自身抗体的相关因素及动力学

Wang, Chen; Potts, David Evan; Sun, Bijun; Toth, Marta; Ujhazi, Boglarka; Sharapova, Svetlana; Miller, Rahim; Rosen, Lindsey; Yilmaz, Melis; Larsen, Kellie; Delmonte, Ottavia M; Poskitt, Laura E; Allenspach, Eric J; de la Morena, Maria Teresa; Ward, Brant R; Hernandez, Joseph D; Geier, Christoph B; Bolanos, Hannie Zomer; Al-Herz, Waleed; Kuijpers, Taco W; Petrov, Andrej A; Savic, Sinisa; Chen, Karin; Westermann-Clark, Emma; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; de Barros Dorna, Mayra; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Licciardi, Francesco; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Miano, Maurizio; Goldman, Stanton C; Raasch, Jason; Gonzalez-Granado, Luis Ignacio; Celmeli, Fatih; Baris, Safa; Abraham, Roshini S; Buchbinder, David K; Butte, Manish J; Wang, Ji-Yang; Wang, Xiaochuan; Strauss, Kevin A; Holland, Steven M; Notarangelo, Luigi D; Walter, Jolan E

Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency

RAG缺陷患者自身免疫性溶血性贫血的临床、免疫学特征、治疗和预后

Wang, Chen; Sun, Bijun; Wu, Kevin; Farmer, Jocelyn R; Ujhazi, Boglarka; Geier, Christoph B; Gordon, Sumai; Westermann-Clark, Emma; Savic, Sinisa; Secord, Elizabeth; Sargur, Ravishankar; Chen, Karin; Jin, Jay J; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Notarangelo, Luigi D; Miano, Maurizio; Buchbinder, David K; Csomos, Krisztian; Wang, Wenjie; Wang, Ji-Yang; Wang, Xiaochuan; Walter, Jolan E

Is Rituximab-Associated Hypogammaglobulinemia Always Linked to B-Cell Depletion?

利妥昔单抗相关性低丙种球蛋白血症是否总是与 B 细胞耗竭有关?

Damianaki, Anthie; Tzanoudaki, Marianna; Kanariou, Maria; Liatsis, Emmanouil; Panos, Alexandros; Soldatou, Alexandra; Kossiva, Lydia

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

简单测量IgA即可预测毛细血管扩张性共济失调患者的免疫力和死亡率

Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Kilic, Sara S; Reda, Shereen M; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Pérez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G; Marques, Laura; Ciznar, Peter; Edgar, John David M; Soler-Palacín, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodríguez-Gallego, Carlos; Arkwright, Peter D; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O; Lehmberg, Kai; Davies, E Graham; Schuetz, Catharina; Kindle, Gerhard; Schubert, Ralf

Pneumocystis jirovecii pneumonia in a X-linked chronic granulomatous disease female carrier

X连锁慢性肉芽肿病女性携带者发生卡氏肺囊虫肺炎

Kalotychou, Vasiliki; Mermigkis, Demetrios; Kanariou, Maria G; Tzanoudaki, Marianna; Georgakopoulou, Vasiliki Epameinondas; Kourbeti, Irene; Daikos, George L

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

RAG缺陷患者自身免疫和过度炎症的结局和治疗策略

Farmer, Jocelyn R; Foldvari, Zsofia; Ujhazi, Boglarka; De Ravin, Suk See; Chen, Karin; Bleesing, Jack J H; Schuetz, Catharina; Al-Herz, Waleed; Abraham, Roshini S; Joshi, Avni Y; Costa-Carvalho, Beatriz T; Buchbinder, David; Booth, Claire; Reiff, Andreas; Ferguson, Polly J; Aghamohammadi, Asghar; Abolhassani, Hassan; Puck, Jennifer M; Adeli, Mehdi; Cancrini, Caterina; Palma, Paolo; Bertaina, Alice; Locatelli, Franco; Di Matteo, Gigliola; Geha, Raif S; Kanariou, Maria G; Lycopoulou, Lilia; Tzanoudaki, Marianna; Sleasman, John W; Parikh, Suhag; Pinero, Gloria; Fischer, Bernard M; Dbaibo, Ghassan; Unal, Ekrem; Patiroglu, Turkan; Karakukcu, Musa; Al-Saad, Khulood Khalifa; Dilley, Meredith A; Pai, Sung-Yun; Dutmer, Cullen M; Gelfand, Erwin W; Geier, Christoph B; Eibl, Martha M; Wolf, Hermann M; Henderson, Lauren A; Hazen, Melissa M; Bonfim, Carmem; Wolska-Kuśnierz, Beata; Butte, Manish J; Hernandez, Joseph D; Nicholas, Sarah K; Stepensky, Polina; Chandrakasan, Shanmuganathan; Miano, Maurizio; Westermann-Clark, Emma; Goda, Vera; Kriván, Gergely; Holland, Steven M; Fadugba, Olajumoke; Henrickson, Sarah E; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Kiykim, Ayca; Bredius, Robbert; Hoeger, Birgit; Boztug, Kaan; Pashchenko, Olga; Neven, Benedicte; Moshous, Despina; Villartay, Jean-Pierre de; Bousfiha, Ahmed Aziz; Hill, Harry R; Notarangelo, Luigi D; Walter, Jolan E

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases

戈谢病、尼曼-匹克C型病和桑菲利波病中神经节苷脂抗体和Hep 2抗体的流行情况

Dimitriou, Evangelia; Paschali, Evangelia; Kanariou, Maria; Michelakakis, Helen

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

133例细胞毒性T淋巴细胞抗原4不足受试者的表型、外显率和治疗

Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter; Patiño, Virginia; Warnatz, Klaus; Wolff, Daniel; Hoshino, Akihiro; Kobayashi, Masao; Imai, Kohsuke; Takagi, Masatoshi; Dybedal, Ingunn; Haddock, Jamanda A; Sansom, David M; Lucena, Jose M; Seidl, Maximilian; Schmitt-Graeff, Annette; Reiser, Veronika; Emmerich, Florian; Frede, Natalie; Bulashevska, Alla; Salzer, Ulrich; Schubert, Desirée; Hayakawa, Seiichi; Okada, Satoshi; Kanariou, Maria; Kucuk, Zeynep Yesim; Chapdelaine, Hugo; Petruzelkova, Lenka; Sumnik, Zdenek; Sediva, Anna; Slatter, Mary; Arkwright, Peter D; Cant, Andrew; Lorenz, Hanns-Martin; Giese, Thomas; Lougaris, Vassilios; Plebani, Alessandro; Price, Christina; Sullivan, Kathleen E; Moutschen, Michel; Litzman, Jiri; Freiberger, Tomas; van de Veerdonk, Frank L; Recher, Mike; Albert, Michael H; Hauck, Fabian; Seneviratne, Suranjith; Pachlopnik Schmid, Jana; Kolios, Antonios; Unglik, Gary; Klemann, Christian; Speckmann, Carsten; Ehl, Stephan; Leichtner, Alan; Blumberg, Richard; Franke, Andre; Snapper, Scott; Zeissig, Sebastian; Cunningham-Rundles, Charlotte; Giulino-Roth, Lisa; Elemento, Olivier; Dückers, Gregor; Niehues, Tim; Fronkova, Eva; Kanderová, Veronika; Platt, Craig D; Chou, Janet; Chatila, Talal A; Geha, Raif; McDermott, Elizabeth; Bunn, Su; Kurzai, Monika; Schulz, Ansgar; Alsina, Laia; Casals, Ferran; Deyà-Martinez, Angela; Hambleton, Sophie; Kanegane, Hirokazu; Taskén, Kjetil; Neth, Olaf; Grimbacher, Bodo

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

176例接受或未接受造血干细胞移植治疗的X连锁高IgM综合征患者的长期疗效

de la Morena, M Teresa; Leonard, David; Torgerson, Troy R; Cabral-Marques, Otavio; Slatter, Mary; Aghamohammadi, Asghar; Chandra, Sharat; Murguia-Favela, Luis; Bonilla, Francisco A; Kanariou, Maria; Damrongwatanasuk, Rongras; Kuo, Caroline Y; Dvorak, Christopher C; Meyts, Isabelle; Chen, Karin; Kobrynski, Lisa; Kapoor, Neena; Richter, Darko; DiGiovanni, Daniela; Dhalla, Fatima; Farmaki, Evangelia; Speckmann, Carsten; Español, Teresa; Shcherbina, Anna; Hanson, Imelda Celine; Litzman, Jiri; Routes, John M; Wong, Melanie; Fuleihan, Ramsay; Seneviratne, Suranjith L; Small, Trudy N; Janda, Ales; Bezrodnik, Liliana; Seger, Reinhard; Raccio, Andrea Gomez; Edgar, J David M; Chou, Janet; Abbott, Jordan K; van Montfrans, Joris; González-Granado, Luis Ignacio; Bunin, Nancy; Kutukculer, Necil; Gray, Paul; Seminario, Gisela; Pasic, Srdjan; Aquino, Victor; Wysocki, Christian; Abolhassani, Hassan; Dorsey, Morna; Cunningham-Rundles, Charlotte; Knutsen, Alan P; Sleasman, John; Costa Carvalho, Beatriz Tavares; Condino-Neto, Antonio; Grunebaum, Eyal; Chapel, Helen; Ochs, Hans D; Filipovich, Alexandra; Cowan, Mort; Gennery, Andrew; Cant, Andrew; Notarangelo, Luigi D; Roifman, Chaim M