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

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

白细胞中人类 E3 泛素连接酶 CBL 的体细胞缺陷会损害 B 细胞的发育和功能,但不会影响 T 细胞的发育和功能。

Vatovec Taja, Neehus Anna-Lena, Jackson Katherine J L, Avery Danielle T, Bagarić Ivan, Erazo Lucia, Arango-Franco Carlos A, Ogishi Masato, Ahmed Syed F, Cederholm Axel, Russell Amanda J, Della Mina Erika, Al-Rifai Dena, Bull Rowena, Buetow Lori, Sobrino Steicy, Zhang Allison, Wahlster Lara, Michelet Marine, Parvaneh Nima, Peel Jessica, Barzaghi Federica, Leardini Davide, Philippot Quentin, Saettini Francesco, Dutrieux Jacques, de Muylder Benedicte, Vendemini Francesca, Baccelli Francesco, Catala Albert, Gambineri Eleonora, Veltroni Marinella, Pandiarajan Vignesh, Aguilar Yurena, Haerynck Filomeen, Elliott Michael, Turville Stuart, Brillot Fabienne, Khan Taushif, Consonni Filippo, Berteloot Laureline, Sewell William A, Rao Geetha, Largeaud Laetitia, Conti Francesca, Roullion Cecile, Masson Cécile, Pegoraro Francesco, Ye Tianyi, Joubran Samantha, Villalpando Emily, Bessot Boris, Seeleuthner Yoann, Le Voyer Tom, Rosain Jérémie, Li Hailun, Janda Zarah, Muratore Edoardo, Soudée Camille, Delabesse Eric, Goulvestre Claire, Shahrooei Mohammad, Puel Anne, André Isabelle, Bole-Feysot Christine, Abel Laurent, Erlacher Miriam, Béziat Vivien, Lagresle-Peyrou Chantal, Cheynier Remi, Six Emmanuelle, Marr Nico, Pasquet Marlène, Alsina Laia, Goodnow Christopher C, Landegren Nils, Aiuti Alessandro, Zhang Peng, Masetti Riccardo, Huang Danny T, Ma Cindy S, Casanova Jean-Laurent, Sankaran Vijay G, Bustamante Jacinta, Tangye Stuart G, Bohlen Jonathan

Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans

人类携带罕见或常见的低活性IL23R变异纯合子会增加患结核病的易感性。

Calderón, Diana Olguín; Kilpatrick, Laura E; Conil, Clément; Philippot, Quentin; Ogishi, Masato; Vellutini, Joseph; Han, Ji Eun; Keating, Narelle; Li, Hailun; Rao, Geetha; Bohlen, Jonathan; Lay, Charles S; Platt, Simon; Kerner, Gaspard; Feredj, Elsa; Peel, Jessica N; Momenilandi, Mana; Seeleuthner, Yoann; Lainé, Candice; Soudée, Camille; Leloup, Claire; Debuisson, Cecile; Lanternier, Fanny; Bitoun, Samuel; Pavy, Stephan; Mariette, Xavier; Rafik, Aniss; Skhoun, Hanaa; El Ouazzani, Hanane; Abderahmani-Ghorfi, Ismail; El-Bagdadi, Jamila; Baena, Andrés; Tejada-Giraldo, Manuela; Barrera, Luis Fernando; Arias, Andrés Augusto; Fabio, Giovanna; Carrabba, Maria; Emiroglu, Melike; Bezrodnik, Liliana; El Zein, Loubna; Hammoud, Hassan; Gregersen, Peter K; Terrier, Benjamin; Lopez, Rafael Leon; Touzet, Marion; Pestre, Vincent; Pasquet, Marlène; Rogge, Lars; Pasquet, Marlène; Fayon, Michael; Galode, François; Jeziorski, Eric; Duffy, Daragh; Quintana-Murci, Lluis; Patin, Etienne; Cunningham-Rundles, Charlotte; Meyts, Isabelle; Zhang, Shen-Ying; Zhang, Qian; Jouanguy, Emmanuelle; Boisson, Bertrand; Rosain, Jérémie; Béziat, Vivien; Shahrooei, Mohammad; Mahdaviani, Seyed Alireza; Rezaei, Nima; Parvaneh, Nima; Chavoshzadeh, Zahra; Yazdanpanah, Niloufar; Aladjidi, Nathalie; Noguera-Julian, Antoni; Esteve-Solé, Ana; Manrique, Laia Alsina; Mansouri, Davood; Keles, Sevgi; Ortakoylu, Mediha Gonenc; Aygun, Deniz; Yucel, Esra; Kiykim, Ayca; Camcioglu, Yildiz; Ma, Cindy S; Tangye, Stuart G; Zhang, Peng; Abel, Laurent; Craggs, Peter D; Casanova, Jean-Laurent; Cobat, Aurélie; Puel, Anne; Bustamante, Jacinta; Hill, Stephen J; Boisson-Dupuis, Stéphanie

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells

先天性免疫缺陷揭示了人类CD4(+)IL-9表达细胞生成和维持的分子需求

Rao, Geetha; Mack, Corinne D; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E; Wong, Melanie; Hsu, Peter; Stormon, Michael O; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A; Bezrodnik, Liliana; Nadeau, Kari C; Abolhassani, Hassan; Abraham, Roshini S; Seppänen, Mikko R J; Béziat, Vivien; Bustamante, Jacinta; Forbes Satter, Lisa R; Leiding, Jennifer W; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G; Ma, Cindy S

Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

更正:西波利尼西亚一例新型 IFNAR1 缺陷病例揭示 DOCK8 中常见的典型剪接位点变异:验证代表性不足的祖先中意义不明的变异的重要性

Huynh, Aimee; E Gray, Paul; Sullivan, Anna; Mackie, Joseph; Guerin, Antoine; Rao, Geetha; Pathmanandavel, Karrnan; Della Mina, Erika; Hollway, Georgina; Hobbs, Matthew; Enthoven, Karen; O'Young, Patrick; McManus, Sam; H Wainwright, Luke; Higgins, Megan; Noon, Fallon; Wong, Melanie; Bastard, Paul; Zhang, Qian; Casanova, Jean-Laurent; Hsiao, Kuang-Chih; Pinzon-Charry, Alberto; S Ma, Cindy; G Tangye, Stuart

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

遗传性人类c-Rel缺乏症会破坏髓系和淋巴系对多种感染性病原体的免疫力。

Lévy, Romain; Langlais, David; Béziat, Vivien; Rapaport, Franck; Rao, Geetha; Lazarov, Tomi; Bourgey, Mathieu; Zhou, Yu J; Briand, Coralie; Moriya, Kunihiko; Ailal, Fatima; Avery, Danielle T; Markle, Janet; Lim, Ai Ing; Ogishi, Masato; Yang, Rui; Pelham, Simon; Emam, Mehdi; Migaud, Mélanie; Deswarte, Caroline; Habib, Tanwir; Saraiva, Luis R; Moussa, Eman A; Guennoun, Andrea; Boisson, Bertrand; Belkaya, Serkan; Martinez-Barricarte, Ruben; Rosain, Jérémie; Belkadi, Aziz; Breton, Sylvain; Payne, Kathryn; Benhsaien, Ibtihal; Plebani, Alessandro; Lougaris, Vassilios; Di Santo, James P; Neven, Bénédicte; Abel, Laurent; Ma, Cindy S; Bousfiha, Ahmed Aziz; Marr, Nico; Bustamante, Jacinta; Liu, Kang; Gros, Philippe; Geissmann, Frédéric; Tangye, Stuart G; Casanova, Jean-Laurent; Puel, Anne

Initial experience and results of a cardiogenetic clinic in a tertiary cardiac care center in India

印度一家三级心脏病护理中心的心脏遗传诊所的初步经验和结果

Rajan, Saileela; Chockalingam, Priya; Koneti, Nageswara Rao; Geetha, Thenral S; Mishra, Sanghamitra; Narasimhan, Calambur

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

CD27 和 CD70 缺陷患者的扩展临床和免疫表型及移植结果

Ghosh, Sujal; Köstel Bal, Sevgi; Edwards, Emily S J; Pillay, Bethany; Jiménez Heredia, Raúl; Erol Cipe, Funda; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A; Zhang, Yu; Oler, Andrew J; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I M; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krüger, Renate; Meisel, Roland; Oommen, Prasad T; Morris, Emma; Neven, Benedicte; Worth, Austen; van Montfrans, Joris; Fraaij, Pieter L A; Choo, Sharon; Dogu, Figen; Davies, E Graham; Burns, Siobhan; Dückers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C; Pan-Hammarström, Qiang; Hammarström, Lennart; Lenardo, Michael J; Ma, Cindy S; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G; Lankester, Arjan C; Boztug, Kaan

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4(+) T cells

PIK3CD 的激活突变会破坏人和小鼠 CD4(+) T 细胞的分化和功能。

Bier, Julia; Rao, Geetha; Payne, Kathryn; Brigden, Henry; French, Elise; Pelham, Simon J; Lau, Anthony; Lenthall, Helen; Edwards, Emily S J; Smart, Joanne M; Cole, Theresa S; Choo, Sharon; Joshi, Avni Y; Abraham, Roshini S; O'Sullivan, Michael; Boztug, Kaan; Meyts, Isabelle; Gray, Paul E; Berglund, Lucinda J; Hsu, Peter; Wong, Melanie; Holland, Steven M; Notarangelo, Luigi D; Uzel, Gulbu; Ma, Cindy S; Brink, Robert; Tangye, Stuart G; Deenick, Elissa K

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

结核病和IL-23依赖性IFN-γ免疫在携带常见TYK2错义变异纯合子的人类中受损

Boisson-Dupuis, Stéphanie; Ramirez-Alejo, Noe; Li, Zhi; Patin, Etienne; Rao, Geetha; Kerner, Gaspard; Lim, Che Kang; Krementsov, Dimitry N; Hernandez, Nicholas; Ma, Cindy S; Zhang, Qian; Markle, Janet; Martinez-Barricarte, Ruben; Payne, Kathryn; Fisch, Robert; Deswarte, Caroline; Halpern, Joshua; Bouaziz, Matthieu; Mulwa, Jeanette; Sivanesan, Durga; Lazarov, Tomi; Naves, Rodrigo; Garcia, Patricia; Itan, Yuval; Boisson, Bertrand; Checchi, Alix; Jabot-Hanin, Fabienne; Cobat, Aurélie; Guennoun, Andrea; Jackson, Carolyn C; Pekcan, Sevgi; Caliskaner, Zafer; Inostroza, Jaime; Costa-Carvalho, Beatriz Tavares; de Albuquerque, Jose Antonio Tavares; Garcia-Ortiz, Humberto; Orozco, Lorena; Ozcelik, Tayfun; Abid, Ahmed; Rhorfi, Ismail Abderahmani; Souhi, Hicham; Amrani, Hicham Naji; Zegmout, Adil; Geissmann, Frédéric; Michnick, Stephen W; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Puel, Anne; Ciancanelli, Michael J; Marr, Nico; Abolhassani, Hassan; Balcells, María Elvira; Condino-Neto, Antonio; Strickler, Alexis; Abarca, Katia; Teuscher, Cory; Ochs, Hans D; Reisli, Ismail; Sayar, Esra H; El-Baghdadi, Jamila; Bustamante, Jacinta; Hammarström, Lennart; Tangye, Stuart G; Pellegrini, Sandra; Quintana-Murci, Lluis; Abel, Laurent; Casanova, Jean-Laurent

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

人类对分枝杆菌的IFN-γ免疫反应受IL-12和IL-23的共同调控。

Martínez-Barricarte, Rubén; Markle, Janet G; Ma, Cindy S; Deenick, Elissa K; Ramírez-Alejo, Noé; Mele, Federico; Latorre, Daniela; Mahdaviani, Seyed Alireza; Aytekin, Caner; Mansouri, Davood; Bryant, Vanessa L; Jabot-Hanin, Fabienne; Deswarte, Caroline; Nieto-Patlán, Alejandro; Surace, Laura; Kerner, Gaspard; Itan, Yuval; Jovic, Sandra; Avery, Danielle T; Wong, Natalie; Rao, Geetha; Patin, Etienne; Okada, Satoshi; Bigio, Benedetta; Boisson, Bertrand; Rapaport, Franck; Seeleuthner, Yoann; Schmidt, Monika; Ikinciogullari, Aydan; Dogu, Figen; Tanir, Gonul; Tabarsi, Payam; Bloursaz, Mohammed Reza; Joseph, Julia K; Heer, Avneet; Kong, Xiao-Fei; Migaud, Mélanie; Lazarov, Tomi; Geissmann, Frédéric; Fleckenstein, Bernhard; Arlehamn, Cecilia Lindestam; Sette, Alessandro; Puel, Anne; Emile, Jean-François; van de Vosse, Esther; Quintana-Murci, Lluis; Di Santo, James P; Abel, Laurent; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Tangye, Stuart G; Sallusto, Federica; Casanova, Jean-Laurent