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

Sustained Interferon Signature Suppression With Anifrolumab in a Patient With STING-Associated Vasculopathy with Onset in Infancy Refractory to JAK Inhibitor and Dazukibart Therapy

在一名婴儿期发病、对JAK抑制剂和达祖基巴特疗法无效的STING相关血管病患者中,使用阿尼弗鲁单抗可持续抑制干扰素特征。

Alehashemi, Sara; Buehring, Bjoern; de Jesus, Adriana A; Gaurav, Sachin; Rastegar, Andre; Baumgardner, Alexi; Friend, Kip; Arisa, Oluwatobi T; Figg, William D; Fink, Danielle; Kuhns, Douglas B; Colton, Ben; Peer, Cody J; Goldbach-Mansky, Raphaela

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Reliable genetic diagnosis of NCF1 (p47(phox))-deficient chronic granulomatous disease using high-throughput sequencing

利用高通量测序对NCF1(p47(phox))缺陷型慢性肉芽肿病进行可靠的基因诊断

Hsu, Amy P; Karlins, Eric; Lack, Justin; Pepper, T Joseph; Lau, Karen; Marshall-Batty, Kimberly R; Long Priel, Debra; Davis, Joie; Fink, Danielle L; Zerbe, Christa S; Gallin, John I; Malech, Harry L; Holland, Steven M; Kuhns, Douglas B

Functional assays for the diagnosis of chronic granulomatous disease

慢性肉芽肿病诊断的功能性检测

Priel, Debra Long; Lau, Karen; Fink, Danielle L; Kuhns, Douglas B

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白的种系突变可揭示T细胞中的信号传导串扰

Ham, Hyoungjun; Jing, Huie; Lamborn, Ian T; Kober, Megan M; Koval, Alexey; Berchiche, Yamina A; Anderson, D Eric; Druey, Kirk M; Mandl, Judith N; Isidor, Bertrand; Ferreira, Carlos R; Freeman, Alexandra F; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter J; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew J; Schmid, Jana Pachlopnik; Kuhns, Douglas B; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien A; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol A; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth N; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki M; Matthews, Helen F; Simons, Cas; Taft, Ryan J; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle L; Kong, Heidi H; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy P; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val J; Stratakis, Constantine A; Rodriguez-Quevedo, Maria F; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen E; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; McWalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif S; Casanova, Jean-Laurent; Makitie, Outi M; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald N; Goodnow, Christopher C; Sakmar, Thomas P; Billadeau, Daniel D; Küry, Sébastien; Katanaev, Vladimir L; Zhang, Yu; Lenardo, Michael J; Su, Helen C

Anakinra-Associated Systemic Amyloidosis

阿那白滞素相关性系统性淀粉样变性

Alehashemi, Sara; Dasari, Surendra; Metpally, Anvitha; Uss, Kat; Castelo-Soccio, Leslie A; Heller, Theo; Kellman, Peter; Chen, Marcus Y; Ahlman, Mark; Kim, Jeff; Wargo, Susannah; Kuhns, Douglas B; Fink, Danielle; de Jesus, Adriana; Martin, Paul S; Chang, Richard; Bolanos, Jonathan; Lee, Chyi-Chia Richard; Nasr, Samih H; Goldbach-Mansky, Raphaela; McPhail, Ellen

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

成人和儿童 COVID-19 中性粒细胞胞外陷阱失调的多中心分析

Carmona-Rivera, Carmelo; Zhang, Yu; Dobbs, Kerry; Markowitz, Tovah E; Dalgard, Clifton L; Oler, Andrew J; Claybaugh, Dillon R; Draper, Deborah; Truong, Meng; Delmonte, Ottavia M; Licciardi, Francesco; Ramenghi, Ugo; Crescenzio, Nicoletta; Imberti, Luisa; Sottini, Alessandra; Quaresima, Virginia; Fiorini, Chiara; Discepolo, Valentina; Lo Vecchio, Andrea; Guarino, Alfredo; Pierri, Luca; Catzola, Andrea; Biondi, Andrea; Bonfanti, Paolo; Poli Harlowe, Maria C; Espinosa, Yasmin; Astudillo, Camila; Rey-Jurado, Emma; Vial, Cecilia; de la Cruz, Javiera; Gonzalez, Ricardo; Pinera, Cecilia; Mays, Jacqueline W; Ng, Ashley; Platt, Andrew; Drolet, Beth; Moon, John; Cowen, Edward W; Kenney, Heather; Weber, Sarah E; Castagnoli, Riccardo; Magliocco, Mary; Stack, Michael A; Montealegre, Gina; Barron, Karyl; Fink, Danielle L; Kuhns, Douglas B; Hewitt, Stephen M; Arkin, Lisa M; Chertow, Daniel S; Su, Helen C; Notarangelo, Luigi D; Kaplan, Mariana J

Preclinical Evaluation of Foamy Virus Vector-Mediated Gene Addition in Human Hematopoietic Stem/Progenitor Cells for Correction of Leukocyte Adhesion Deficiency Type 1

泡沫病毒载体介导的基因添加在人造血干/祖细胞中治疗白细胞黏附缺陷1型的临床前评价

Smith, Richard H; Bloomer, Hanan; Fink, Danielle; Keyvanfar, Keyvan; Nasimuzzaman, Md; Sancheznieto, Fátima; Dutta, Roop; Guenther Bui, Kacey; Alvarado, Luigi J; Bauer, Thomas R Jr; Hickstein, Dennis D; Russell, David W; Malik, Punam; van der Loo, Johannes C M; Highfill, Steven L; Kuhns, Douglas B; Pirooznia, Mehdi; Larochelle, Andre

Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

佐替拉西尼联合替莫唑胺治疗复发性高级别星形细胞瘤患者的 I 期研究

Wu, Jing; Yuan, Ying; Long Priel, Debra A; Fink, Danielle; Peer, Cody J; Sissung, Tristan M; Su, Yu-Ting; Pang, Ying; Yu, Guangyang; Butler, Madison K; Mendoza, Tito R; Vera, Elizabeth; Ahmad, Salman; Bryla, Christine; Lindsley, Matthew; Grajkowska, Ewa; Mentges, Kelly; Boris, Lisa; Antony, Ramya; Garren, Nancy; Siegel, Christine; Lollo, Nicole; Cordova, Christine; Aboud, Orwa; Theeler, Brett J; Burton, Eric M; Penas-Prado, Marta; Leeper, Heather; Gonzales, Javier; Armstrong, Terri S; Calvo, Katherine R; Figg, William D; Kuhns, Douglas B; Gallin, John I; Gilbert, Mark R