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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

LRRK2-mediated NLRC4 phosphorylation differentially regulates IL-1β/IL-18 secretion

LRRK2介导的NLRC4磷酸化差异性地调节IL-1β/IL-18的分泌

Deloer, Sharmina; Fuss, Ivan; Gough, Portia; Debebe, Anketse; Picker, Mellissa; Devita, Robert J; Peter, Inga; Strober, Warren

Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

评估 pozelimab 在伴有补体过度激活、血管病性血栓形成和蛋白丢失性肠病的 CD55 缺陷患者中的疗效和安全性:一项开放标签的 2 期和 3 期研究

Ozen, Ahmet; Chongsrisawat, Voranush; Sefer, Asena Pinar; Kolukisa, Burcu; Jalbert, Jessica J; Meagher, Karoline A; Brackin, Taylor; Feldman, Hagit Baris; Baris, Safa; Karakoc-Aydiner, Elif; Ergelen, Rabia; Fuss, Ivan J; Moorman, Heather; Suratannon, Narissara; Suphapeetiporn, Kanya; Perlee, Lorah; Harari, Olivier A; Yancopoulos, George D; Lenardo, Michael J

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

对1000个具有复杂免疫表型的家庭进行临床外显子组测序:迈向全面的基因组评估

Similuk, Morgan N; Yan, Jia; Ghosh, Rajarshi; Oler, Andrew J; Franco, Luis M; Setzer, Michael R; Kamen, Michael; Jodarski, Colleen; DiMaggio, Thomas; Davis, Joie; Gore, Rachel; Jamal, Leila; Borges, Adrienne; Gentile, Nicole; Niemela, Julie; Lowe, Chenery; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Hsu, Amy P; Hong, Celine; Littel, Patricia; Seifert, Bryce A; Milner, Joshua; Johnston, Jennifer J; Cheng, Xi; Li, Zhiwen; Veltri, Daniel; Huang, Ke; Kaladi, Krishnaveni; Barnett, Jason; Zhang, Lingwen; Vlasenko, Nikita; Fan, Yongjie; Karlins, Eric; Ganakammal, Satishkumar Ranganathan; Gilmore, Robert; Tran, Emily; Yun, Alvin; Mackey, Joseph; Yazhuk, Svetlana; Lack, Justin; Kuram, Vasudev; Cao, Wenjia; Huse, Susan; Frank, Karen; Fahle, Gary; Rosenzweig, Sergio; Su, Yan; Hwang, SuJin; Bi, Weimin; Bennett, John; Myles, Ian A; De Ravin, Suk See; Fuss, Ivan; Strober, Warren; Bielekova, Bibiana; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Williamson, Peter; Kumar, Kelly; Dempsy, Caeden; Frischmeyer-Guerrerio, Pamela; Fisch, Robin; Bolan, Hyejeong; Metcalfe, Dean D; Komarow, Hirsh; Carter, Melody; Druey, Kirk M; Sereti, Irini; Dropulic, Lesia; Klion, Amy D; Khoury, Paneez; O' Connell, Elise M; Holland-Thomas, Nicole C; Brown, Thomas; McDermott, David H; Murphy, Philip M; Bundy, Vanessa; Keller, Michael D; Peng, Christine; Kim, Helen; Norman, Stephanie; Delmonte, Ottavia M; Kang, Elizabeth; Su, Helen C; Malech, Harry; Freeman, Alexandra; Zerbe, Christa; Uzel, Gulbu; Bergerson, Jenna R E; Rao, V Koneti; Olivier, Kenneth N; Lyons, Jonathan J; Lisco, Andrea; Cohen, Jeffrey I; Lionakis, Michail S; Biesecker, Leslie G; Xirasagar, Sandhya; Notarangelo, Luigi D; Holland, Steven M; Walkiewicz, Magdalena A

Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication

X连锁无丙种球蛋白血症中的结节性再生性增生:一种被低估的严重并发症

Nunes-Santos, Cristiane J; Koh, Christopher; Rai, Anjali; Sacco, Keith; Marciano, Beatriz E; Kleiner, David E; Marko, Jamie; Bergerson, Jenna R E; Stack, Michael; Rivera, Maria M; Constantine, Gregory; Strober, Warren; Uzel, Gulbu; Fuss, Ivan J; Notarangelo, Luigi D; Holland, Steven M; Rosenzweig, Sergio D; Heller, Theo

Recurrent Nodular Regenerative Hyperplasia Following Liver Transplantation in Common Variable Immunodeficiency

常见变异型免疫缺陷患者肝移植后复发性结节性再生性增生

Hercun, Julian; Parikh, Esha; Kleiner, David E; Fuss, Ivan; Uzel, Gulbu; Strober, Warren; Koh, Christopher; Holland, Steven M; Heller, Theo

Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency

抗体缺乏患者对SARS-CoV-2仍具有强烈的抗体和T细胞反应

Kinoshita, Hannah; Durkee-Shock, Jessica; Jensen-Wachspress, Mariah; Kankate, Vaishnavi V; Lang, Haili; Lazarski, Christopher A; Keswani, Anjeni; Webber, Kathleen C; Montgomery-Recht, Kimberly; Walkiewicz, Magdalena; Notarangelo, Luigi D; Burbelo, Peter D; Fuss, Ivan; Cohen, Jeffrey I; Bollard, Catherine M; Keller, Michael D

The Role of NLRP3 and IL-1β in the Pathogenesis of Inflammatory Bowel Disease

NLRP3和IL-1β在炎症性肠病发病机制中的作用

Mao, Liming; Kitani, Atsushi; Strober, Warren; Fuss, Ivan J

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension

脾脏和肝脏体积测量作为非肝硬化门静脉高压患者肝静脉压力梯度的替代指标

Etzion, Ohad; Takyar, Varun; Novack, Victor; Gharib, Ahmed M; Canales, Raissa; Adebogun, Akeem; Matsumoto, Eric; Eccleston, Jason L; Kleiner, David E; Rosenzweig, Sergio D; Gunay-Aygun, Meral; Uzel, Gulbu; Fuss, Ivan; Childs, Richard; Holland, Steven M; Levy, Elliot B; Liang, T Jake; Heller, Theo; Koh, Christopher