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

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

对来自患者和实验室生成的突变体的 IKAROS 变异体进行系统性功能验证

Kuehn, Hye Sun; Gil Silva, Agustin A; Klangkalya, Natchanun; Esteve-Sole, Ana; Goel, Shubham; Niemela, Julie E; Stoddard, Jennifer L; Chong, Hey; Williams, Kelli; Ip, Winnie; Framil Seoane, Mario; Loganathan, Sathish Kumar; Anantharachagan, Ariharan; García-Soidán, Ana; Shaffren, Serena; Bindernagel, Constance; Mendez, Philip; Miller, Rahim Z; Abolhassani, Hassan; Hoytema van Konijnenburg, David P; Geerlinks, Ashley V; Cabanillas, Diana; Zonneveld-Huijssoon, Evelien; Rutgers, Abraham; Tangye, Stuart; Ma, Cindy; Grey, Alice; O'Young, Patrick; Aldave Becerra, Juan Carlos; Lyons, Jonathan J; White, Andrew A; Claiborne, Michael; Doroudchi, Mohammad-Ali; Modena, Brian D; Milner, Joshua D; Solanich, Xavier; Farela Neves, João; Platt, Craig D; Hammarström, Lennart; Routes, John M; Verbsky, James; Butte, Manish J; Lesmana, Harry; Griffiths, William J H; Kumararatne, Dinakantha; Hauck, Fabian; Allende, Luis M; Rodríguez-Gallego, Carlos; Elfeky, Reem; Rubin, Tamar; Boztug, Kaan; Fleisher, Thomas A; Rosenzweig, Sergio D

Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling

T细胞活化后维持X染色体失活需要NF-κB信号通路。

Katherine S Forsyth ,Natalie E Toothacre ,Nikhil Jiwrajka ,Amanda M Driscoll ,Lindsey A Shallberg ,Charlotte Cunningham-Rundles ,Sara Barmettler ,Jocelyn Farmer ,James Verbsky ,John Routes ,Daniel P Beiting ,Neil Romberg ,Michael J May ,Montserrat C Anguera

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

美国传染病网络(USIDNET)报告显示,先天性免疫缺陷患者接种新冠疫苗可降低与新冠肺炎相关的住院和重症监护需求。

McDonnell, John; Cousins, Kimberley; Younger, M Elizabeth M; Lane, Adam; Abolhassani, Hassan; Abraham, Roshini S; Al-Tamemi, Salem; Aldave-Becerra, Juan Carlos; Al-Faris, Eman Hesham; Alfaro-Murillo, Alberto; AlKhater, Suzan A; Alsaati, Nouf; Doss, Alexa Michelle Altman; Anderson, Melissa; Angarola, Ernestina; Ariue, Barbara; Arnold, Danielle E; Assa'ad, Amal H; Aytekin, Caner; Bank, Meaghan; Bergerson, Jenna R E; Bleesing, Jack; Boesing, John; Bouso, Carolina; Brodszki, Nicholas; Cabanillas, Diana; Cady, Carol; Callahan, Meghan A; Caorsi, Roberta; Carbone, Javier; Carrabba, Maria; Castagnoli, Riccardo; Catanzaro, Jason R; Chan, Samantha; Chandra, Sharat; Chapdelaine, Hugo; Chavoshzadeh, Zahra; Chong, Hey Jin; Connors, Lori; Consonni, Filippo; Correa-Jimenez, Oscar; Cunningham-Rundles, Charlotte; D'Astous-Gauthier, Katherine; Delmonte, Ottavia Maria; Demirdag, Yesim Yilmaz; Deshpande, Deepti R; Diaz-Cabrera, Natalie M; Dimitriades, Victoria R; El-Owaidy, Rasha; ElGhazali, Gehad; Al-Hammadi, Suleiman; Fabio, Giovanna; Faure, Astrid Schellnast; Feng, Jin; Fernandez, James M; Fill, Lauren; Franco, Guacira R; Frenck, Robert W; Fuleihan, Ramsay L; Giardino, Giuliana; Galant-Swafford, Jessica; Gambineri, Eleonora; Garabedian, Elizabeth K; Geerlinks, Ashley V; Goudouris, Ekaterini; Grecco, Octavio; Pan-Hammarström, Qiang; Khani, Hedieh Haji Khodaverdi; Hammarström, Lennart; Hartog, Nicholas L; Heimall, Jennifer; Hernandez-Molina, Gabriela; Horner, Caroline C; Hostoffer, Robert W; Hristova, Nataliya; Hsiao, Kuang-Chih; Ivankovich-Escoto, Gabriela; Jaber, Faris; Jalil, Maaz; Jamee, Mahnaz; Jean, Tiffany; Jeong, Stephanie; Jhaveri, Devi; Jordan, Michael B; Joshi, Avni Y; Kalkat, Amanpreet; Kanarek, Henry J; Kellner, Erinn S; Khojah, Amer; Khoury, Ruby; Kokron, Cristina M; Kumar, Ashish; Lecerf, Kelsey; Lehman, Heather K; Leiding, Jennifer W; Lesmana, Harry; Lim, Xin Rong; Lopes, Joao Pedro; López, Ana Laura; Tarquini, Lucia; Lundgren, Ingrid S; Magnusson, Julieann; Marinho, Ana Karolina B B; Marseglia, Gian Luigi; Martone, Giulia M; Mechtler, Annamaria G; Mendonca, Leonardo; Milner, Joshua D; Mustillo, Peter J; Naderi, Asal Gharib; Naviglio, Samuele; Nell, Jeremy; Niebur, Hana B; Notarangelo, Luigi; Oleastro, Matias; Ortega-López, María Claudia; Patel, Neil R; Petrovic, Gordana; Pignata, Claudio; Porras, Oscar; Prince, Benjamin T; Puck, Jennifer M; Qamar, Nashmia; Rabusin, Marco; Raje, Nikita; Regairaz, Lorena; Risma, Kimberly A; Ristagno, Elizabeth H; Routes, John; Roxo-Junior, Persio; Salemi, Negin; Scalchunes, Christopher; Schuval, Susan J; Seneviratne, Suranjith L; Shankar, Ashwin; Sherkat, Roya; Shin, Junghee Jenny; Siddiqi, Abeer; Signa, Sara; Sobh, Ali; Lima, Fabiana Mascarenhas Souza; Stenehjem, Kristen K; Tam, Jonathan S; Tang, Monica; Barros, Myrthes Toledo; Verbsky, James; Vergadi, Eleni; Voelker, Dayne H; Volpi, Stefano; Wall, Luke A; Wang, Christine; Williams, Kelli W; Wu, Eveline Y; Wu, Shan Shan; Zhou, Jessie J; Cook, Alexandria; Sullivan, Kathleen E; Marsh, Rebecca

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

衡量新生儿筛查对重症联合免疫缺陷造血干细胞移植后生存率的影响:来自原发性免疫缺陷治疗联盟的一项为期36年的纵向研究

Thakar, Monica S; Logan, Brent R; Puck, Jennifer M; Dunn, Elizabeth A; Buckley, Rebecca H; Cowan, Morton J; O'Reilly, Richard J; Kapoor, Neena; Satter, Lisa Forbes; Pai, Sung-Yun; Heimall, Jennifer; Chandra, Sharat; Ebens, Christen L; Chellapandian, Deepak; Williams, Olatundun; Burroughs, Lauri M; Saldana, Blachy Davila; Rayes, Ahmad; Madden, Lisa M; Chandrakasan, Shanmuganathan; Bednarski, Jeffrey J 2nd; DeSantes, Kenneth B; Cuvelier, Geoffrey D E; Teira, Pierre; Gillio, Alfred P; Eissa, Hesham; Knutsen, Alan P; Goldman, Frederick D; Aquino, Victor M; Shereck, Evan B; Moore, Theodore B; Caywood, Emi H; Lugt, Mark T Vander; Rozmus, Jacob; Broglie, Larisa; Yu, Lolie C; Shah, Ami J; Andolina, Jeffrey R; Liu, Xuerong; Parrott, Roberta E; Dara, Jasmeen; Prockop, Susan; Martinez, Caridad A; Kapadia, Malika; Jyonouchi, Soma C; Sullivan, Kathleen E; Bleesing, Jack J; Chaudhury, Sonali; Petrovic, Aleksandra; Keller, Michael D; Quigg, Troy C; Parikh, Suhag; Shenoy, Shalini; Seroogy, Christine; Rubin, Tamar; Decaluwe, Hélène; Routes, John M; Torgerson, Troy R; Leiding, Jennifer W; Pulsipher, Michael A; Kohn, Donald B; Griffith, Linda M; Haddad, Elie; Dvorak, Christopher C; Notarangelo, Luigi D

Dysregulated Lymphocyte Antigen Receptor Signaling in Common Variable Immunodeficiency with Granulomatous Lymphocytic Interstitial Lung Disease

肉芽肿性淋巴细胞间质性肺病常见变异性免疫缺陷症中的淋巴细胞抗原受体信号失调

Victor G Lui, Tusharkanti Ghosh, Amy Rymaszewski, Shaoying Chen, Ryan M Baxter, Daniel S Kong, Debashis Ghosh, John M Routes, James W Verbsky, Elena W Y Hsieh

Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review

常见变异型免疫缺陷间质性肺病诊断检测:系统评价

Bintalib, Heba M; van de Ven, Annick; Jacob, Joseph; Davidsen, Jesper Rømhild; Fevang, Børre; Hanitsch, Leif G; Malphettes, Marion; van Montfrans, Joris; Maglione, Paul J; Milito, Cinzia; Routes, John; Warnatz, Klaus; Hurst, John R

Association of Persistent Rubella Virus With Idiopathic Skin Granulomas in Clinically Immunocompetent Adults

持续性风疹病毒与临床免疫功能正常成人特发性皮肤肉芽肿的关联

Wanat, Karolyn A; Perelygina, Ludmila; Chen, Min-Hsin; Hao, LiJuan; Abernathy, Emily; Bender, Nicole R; Shields, Bridget E; Wilson, Barbara D; Crosby, David; Routes, John; Samimi, Sara S; Haun, Paul L; Sokumbi, Olayemi; Icenogle, Joseph P; Sullivan, Kathleen E; Rosenbach, Misha; Drolet, Beth A

Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study

先天性免疫缺陷的过敏表现及其对诊断的影响:一项全球性研究

El-Sayed, Zeinab A; El-Ghoneimy, Dalia H; Ortega-Martell, José A; Radwan, Nesrine; Aldave, Juan C; Al-Herz, Waleed; Al-Nesf, Maryam A; Condino-Neto, Antonio; Cole, Theresa; Eley, Brian; Erwa, Nahla H H; Espinosa-Padilla, Sara; Faria, Emilia; Rosario Filho, Nelson A; Fuleihan, Ramsay; Galal, Nermeen; Garabedian, Elizabeth; Hintermeyer, Mary; Imai, Kohsuke; Irani, Carla; Kamal, Ebtihal; Kechout, Nadia; Klocperk, Adam; Levin, Michael; Milota, Tomas; Ouederni, Monia; Paganelli, Roberto; Pignata, Claudio; Qamar, Farah N; Quinti, Isabella; Qureshi, Sonia; Radhakrishnan, Nita; Rezaei, Nima; Routes, John; Singh, Surjit; Siniah, Sangeetha; Abdel-Hakam Taha, Intisar; Tanno, Luciana K; Van Dort, Ben; Volokha, Alla; Sullivan, Kathleen

Safety and Tolerability of Subcutaneous IgPro20 at High Infusion Parameters in Patients with Primary Immunodeficiency: Findings from the Pump-Assisted Administration Cohorts of the HILO Study

在原发性免疫缺陷患者中,高输注参数下皮下注射IgPro20的安全性和耐受性:HILO研究泵辅助给药队列的研究结果

Anderson, John T; Bonagura, Vincent R; Cowan, Juthaporn; Hsu, Connie; Mustafa, S Shahzad; Patel, Niraj C; Routes, John M; Sriaroon, Panida; Vinh, Donald C; Hofmann, Jutta H; Praus, Michaela; Rojavin, Mikhail A

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance

大多数肌病性层粘蛋白变异体聚集:一种用于评估意义未明变异体的功能基因组学方法

Corey L Anderson ,Emma R Langer ,Timothy C Routes ,Seamus F McWilliams ,Igor Bereslavskyy ,Timothy J Kamp ,Lee L Eckhardt