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

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

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

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

Impaired B-cell function in ERCC2 deficiency

ERCC2缺陷导致B细胞功能受损

Rossmanith, Raphael; Sauerwein, Kai; Geier, Christoph B; Leiss-Piller, Alexander; Stemberger, Roman F; Sharapova, Svetlana; Gruber, Robert W; Bergler, Helmut; Verbsky, James W; Csomos, Krisztian; Walter, Jolan E; Wolf, Hermann M

Patients with juvenile idiopathic arthritis have decreased clonal diversity in the CD8+ T cell repertoire response to influenza vaccination

患有幼年特发性关节炎的患者对流感疫苗接种的 CD8+ T 细胞库克隆多样性降低

Sara E Sabbagh #, Dipica Haribhai #, Jill A Gershan, James Verbsky, James Nocton, Maryam Yassai, Elena N Naumova, Erin Hammelev, Mahua Dasgupta, Ke Yan, Jack Gorski, Calvin B Williams

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

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

Role of GATA2 in Human NK Cell Development

GATA2在人类NK细胞发育中的作用

Wang, Dandan; Uyemura, Bradley; Hashemi, Elaheh; Bjorgaard, Stacey; Riese, Matthew; Verbsky, James; Thakar, Monica S; Malarkannan, Subramaniam

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

新型半合子 IL2RG p.(Pro58Ser) 突变会损害淋巴细胞上的 IL-2 受体复合物表达,从而导致 X 连锁联合免疫缺陷

Elina A Tuovinen, Juha Grönholm, Tiina Öhman, Sakari Pöysti, Raine Toivonen, Anna Kreutzman, Kaarina Heiskanen, Luca Trotta, Sanna Toiviainen-Salo, John M Routes, James Verbsky, Satu Mustjoki, Janna Saarela, Juha Kere, Markku Varjosalo, Arno Hänninen, Mikko R J Seppänen