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

DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells

DOCK8 和 STAT3 协同作用抑制诱导 IgE 的滤泡辅助性 T 细胞。

Siniscalco, Emily R; Fisher, Courtney; Lu, Meng-Ping; Grassmann, Jessica D S; Mack, Corinne D; Yaakoubi, Roukaya; Jacobsen, Danielle; Chen, Qian; Lee, Donguk; Rajamanimuthu, Priya; Simoneau, Tregony; Preece, Kahn; Gray, Paul; Okada, Satoshi; Boisson, Bertrand; Kayaoglu, Basak; Danielson, Jeffrey; Freeman, Alexandra F; Casanova, Jean-Laurent; Chatila, Talal A; Su, Helen C; Ma, Cindy S; Williams, Adam; Eisenbarth, Stephanie C; Gowthaman, Uthaman

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

IL12RB1 缺乏症在北美出现:临床表型不断扩展

Wang, Chen; Marciano, Beatriz E; Harris, Annalie J; Johnston, Alicia M; Apaydin Arikan, Evsen; Bayer, Diana K; Solomon, Benjamin D; Price, Nathan B; Platt, Craig D; Modi, Arunkumar J; Shaker, Marcus S; Seroogy, Christine M; Johnson, Daniel; Kleiner, David E; Chirombo Kluczynski, Lavenda; Anderson, Victoria L; Daub, Janine R; Berghout, Joanne; Oler, Andrew J; Walkiewicz, Magdalena A; Similuk, Morgan; Lewis, David B; Galgiani, John N; Freeman, Alexandra F; Rosen, Lindsey B; Hsu, Amy P; Zerbe, Christa S; Holland, Steven M

What We Have Here Is a Failure to Communicate: Interleukin-12 / Interferon-gamma Axis Defects and Mendelian Susceptibility to Mycobacterial Disease

我们这里面临的是沟通障碍:白细胞介素-12/干扰素-γ轴缺陷与分枝杆菌病的孟德尔易感性

Johnston, Alicia Μ; Rider, Nicholas L; Freeman, Alexandra F; Holland, Steven M; Orange, Jordan S; Platt, Craig D; Anglero, Andrea Carlo; Tsoulis, Michael; Zinn, Daniel; Passarelli, Patrick; Shaker, Marcus

Beyond Fumigatus: a molecular portrait of clinical Aspergillus diversity, pathogenicity, and antifungal resistance

超越烟曲霉:临床曲霉菌多样性、致病性和抗真菌耐药性的分子图谱

Aneke, Chioma I; Shahegh, Sherin S; Freeman, Alexandra F; Zerbe, Christa; Kwon-Chung, Kyung J; Holland, Steven; Fennelly, Kevin; Lionakis, Michail S; Seyedmousavi, Amir

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

磷酸葡萄糖变位酶-3缺乏症的扩展临床表型和长期预后

Wang, Chen; Patel, Meera; Urban, Amanda; Nelson, Celeste G; DiMaggio, Thomas; Heller, Theo; Cowen, Edward W; Kong, Heidi H; Kenney, Heather A; Santangeli, Enrico; Wang, Yanhan; Toribio-Dionicio, Crhistian; Akar-Ghibril, Nicole; Adeli, Mehdi; Gonzalez, Corina E; Holland, Steven M; Notarangelo, Luigi D; Milner, Joshua D; Lyons, Jonathan J; Freeman, Alexandra F

How I Treat: Infections and inborn errors of immunity-Prevention, diagnosis, and treatment

我的治疗方法:感染和先天性免疫缺陷——预防、诊断和治疗

Freeman, Alexandra F; Thielen, Beth K; Pozos, Tamara C

Publisher Correction: TCF1 and LEF1 promote B-1a cell homeostasis and regulatory function

出版商更正:TCF1 和 LEF1 促进 B-1a 细胞稳态和调节功能

Shen, Qian; Wang, Hao; Roco, Jonathan A; Meng, Xiangpeng; Bosticardo, Marita; Hodges, Marie; Battaglia, Michael; Feng, Zhi-Ping; Talks, Benjamin James; Powell, Jason; Shanmugiah, Vijaya Baskar Mahalingam; Chu, Julia; Rahman, Najib M; Elsheikh, Alguili; Chakravarty, Probir; Grenov, Amalie; Emmerich, Max; Delmonte, Ottavia M; Freeman, Alexandra F; Keller, Michael D; Belaid, Brahim; Papa, Ilenia; Lee, James C; Cañete, Pablo F; Gonzalez-Figueroa, Paula; Zhang, Yaoyuan; Xue, Hai-Hui; Turajlic, Samra; Notarangelo, Luigi D; Haniffa, Muzlifah; Garrett-Sinha, Lee Ann; Parry, Helen M; Kanellakis, Nikolaos I; Vinuesa, Carola G

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome

STAT3依赖的CFTR和纤毛发生调控对于高IgE综合征中的黏液纤毛清除和先天性气道防御至关重要

Sun, Ling; Walls, Samantha A; Dang, Hong; Quinney, Nancy L; Sears, Patrick R; Sadritabrizi, Taraneh; Hasegawa, Koichi; Okuda, Kenichi; Asakura, Takanori; Chang, Xiuya; Zheng, Meiqi; Mikami, Yu; Dizmond, Felicia U; Danilova, Daniela; Zhou, Lynn; Deshmukh, Anshulika; Cholon, Deborah M; Radicioni, Giorgia; Rogers, Troy D; Kissner, William J; Markovetz, Matthew R; Guhr Lee, Tara N; Gutay, Mark I; Esther, Charles R Jr; Chua, Michael; Grubb, Barbara R; Ehre, Camille; Kesimer, Mehmet; Hill, David B; Ostrowski, Lawrence E; Button, Brian; Gentzsch, Martina; Robinson, Chevalia; Olivier, Kenneth N; Freeman, Alexandra F; Randell, Scott H; Vladar, Eszter; O'Neal, Wanda K; Boucher, Richard C; Chen, Gang