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

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease

实验室评估IFN-γ回路在孟德尔遗传性分枝杆菌病分子诊断中的应用

Esteve-Solé, Ana; Sologuren, Ithaisa; Martínez-Saavedra, María Teresa; Deyà-Martínez, Àngela; Oleaga-Quintas, Carmen; Martinez-Barricarte, Rubén; Martin-Nalda, Andrea; Juan, Manel; Casanova, Jean-Laurent; Rodriguez-Gallego, Carlos; Alsina, Laia; Bustamante, Jacinta

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

完全性干扰素-γ受体1缺陷患儿的诊断和治疗面临挑战

Olbrich, Peter; Martínez-Saavedra, Maria Teresa; Perez-Hurtado, José Maria; Sanchez, Cristina; Sanchez, Berta; Deswarte, Caroline; Obando, Ignacio; Casanova, Jean-Laurent; Speckmann, Carsten; Bustamante, Jacinta; Rodriguez-Gallego, Carlos; Neth, Olaf

Panchalingam S et al (Clin Infect Dis 2012; 55(Suppl 4):S294–302)

Panchalingam S 等(Clin Infect Dis 2012; 55(增刊 4):S294–302)

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne

Radiation induced apoptosis and initial DNA damage are inversely related in locally advanced breast cancer patients

在局部晚期乳腺癌患者中,辐射诱导的细胞凋亡与初始DNA损伤呈负相关。

Pinar, Beatriz; Henríquez-Hernández, Luis Alberto; Lara, Pedro C; Bordon, Elisa; Rodriguez-Gallego, Carlos; Lloret, Marta; Nuñez, Maria Isabel; De Almodovar, Mariano Ruiz

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

重新审视人类IL-12Rβ1缺乏症:一项对来自30个国家的141名患者的调查

de Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson-Dupuis, Stéphanie; Feinberg, Jacqueline; Al-Muhsen, Saleh; Jannière, Lucile; Rose, Yoann; de Suremain, Maylis; Kong, Xiao-Fei; Filipe-Santos, Orchidée; Chapgier, Ariane; Picard, Capucine; Fischer, Alain; Dogu, Figen; Ikinciogullari, Aydan; Tanir, Gonul; Al-Hajjar, Sami; Al-Jumaah, Suliman; Frayha, Husn H; AlSum, Zobaida; Al-Ajaji, Sulaiman; Alangari, Abdullah; Al-Ghonaium, Abdulaziz; Adimi, Parisa; Mansouri, Davood; Ben-Mustapha, Imen; Yancoski, Judith; Garty, Ben-Zion; Rodriguez-Gallego, Carlos; Caragol, Isabel; Kutukculer, Necil; Kumararatne, Dinakantha S; Patel, Smita; Doffinger, Rainer; Exley, Andrew; Jeppsson, Olle; Reichenbach, Janine; Nadal, David; Boyko, Yaryna; Pietrucha, Barbara; Anderson, Suzanne; Levin, Michael; Schandené, Liliane; Schepers, Kinda; Efira, André; Mascart, Françoise; Matsuoka, Masao; Sakai, Tatsunori; Siegrist, Claire-Anne; Frecerova, Klara; Blüetters-Sawatzki, Renate; Bernhöft, Jutta; Freihorst, Joachim; Baumann, Ulrich; Richter, Darko; Haerynck, Filomeen; De Baets, Frans; Novelli, Vas; Lammas, David; Vermylen, Christiane; Tuerlinckx, David; Nieuwhof, Chris; Pac, Malgorzata; Haas, Walther H; Müller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Levy, Jacob; Raj, Revathi; Cohen, Aileen Cleary; Lewis, David B; Holland, Steven M; Yang, Kuender D; Wang, Xiaochuan; Wang, Xiaohong; Jiang, Liping; Yang, Xiqiang; Zhu, Chaomin; Xie, Yuanyuan; Lee, Pamela Pui Wah; Chan, Koon Wing; Chen, Tong-Xin; Castro, Gabriela; Natera, Ivelisse; Codoceo, Ana; King, Alejandra; Bezrodnik, Liliana; Di Giovani, Daniela; Gaillard, Maria Isabel; de Moraes-Vasconcelos, Dewton; Grumach, Anete Sevciovic; da Silva Duarte, Alberto Jose; Aldana, Ruth; Espinosa-Rosales, Francisco Javier; Bejaoui, Mohammed; Bousfiha, Ahmed Aziz; Baghdadi, Jamila El; Özbek, Namik; Aksu, Guzide; Keser, Melike; Somer, Ayper; Hatipoglu, Nevin; Aydogmus, Çigdem; Asilsoy, Suna; Camcioglu, Yildiz; Gülle, Saniye; Ozgur, Tuba T; Ozen, Meteran; Oleastro, Matias; Bernasconi, Andrea; Mamishi, Setareh; Parvaneh, Nima; Rosenzweig, Sergio; Barbouche, Ridha; Pedraza, Sigifredo; Lau, Yu Lung; Ehlayel, Mohammad S; Fieschi, Claire; Abel, Laurent; Sanal, Ozden; Casanova, Jean-Laurent

Pyogenic bacterial infections in humans with MyD88 deficiency

MyD88 缺陷患者的化脓性细菌感染

von Bernuth, Horst; Picard, Capucine; Jin, Zhongbo; Pankla, Rungnapa; Xiao, Hui; Ku, Cheng-Lung; Chrabieh, Maya; Mustapha, Imen Ben; Ghandil, Pegah; Camcioglu, Yildiz; Vasconcelos, Júlia; Sirvent, Nicolas; Guedes, Margarida; Vitor, Artur Bonito; Herrero-Mata, María José; Aróstegui, Juan Ignacio; Rodrigo, Carlos; Alsina, Laia; Ruiz-Ortiz, Estibaliz; Juan, Manel; Fortuny, Claudia; Yagüe, Jordi; Antón, Jordi; Pascal, Mariona; Chang, Huey-Hsuan; Janniere, Lucile; Rose, Yoann; Garty, Ben-Zion; Chapel, Helen; Issekutz, Andrew; Maródi, László; Rodriguez-Gallego, Carlos; Banchereau, Jacques; Abel, Laurent; Li, Xiaoxia; Chaussabel, Damien; Puel, Anne; Casanova, Jean-Laurent

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

IRAK-4缺陷儿童对细菌感染具有选择性易感性:IRAK-4依赖性TLR在保护性免疫中功能冗余

Ku, Cheng-Lung; von Bernuth, Horst; Picard, Capucine; Zhang, Shen-Ying; Chang, Huey-Hsuan; Yang, Kun; Chrabieh, Maya; Issekutz, Andrew C; Cunningham, Coleen K; Gallin, John; Holland, Steven M; Roifman, Chaim; Ehl, Stephan; Smart, Joanne; Tang, Mimi; Barrat, Franck J; Levy, Ofer; McDonald, Douglas; Day-Good, Noorbibi K; Miller, Richard; Takada, Hidetoshi; Hara, Toshiro; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Speert, David; Sanlaville, Damien; Li, Xiaoxia; Geissmann, Frédéric; Vivier, Eric; Maródi, László; Garty, Ben-Zion; Chapel, Helen; Rodriguez-Gallego, Carlos; Bossuyt, Xavier; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

白细胞介素 12 受体 β1 缺乏症的低外显率、广泛耐药性和良好预后:医学和免疫学意义

Fieschi Claire, Dupuis Stéphanie, Catherinot Emilie, Feinberg Jacqueline, Bustamante Jacinta, Breiman Adrien, Altare Frédéric, Baretto Richard, Le Deist Françoise, Kayal Samer, Koch Hartmut, Richter Darko, Brezina Martin, Aksu Guzide, Wood Phil, Al-Jumaah Suliman, Raspall Miquel, Da Silva Duarte Alberto José, Tuerlinckx David, Virelizier Jean-Louis, Fischer Alain, Enright Andrea, Bernhöft Jutta, Cleary Aileen M, Vermylen Christiane, Rodriguez-Gallego Carlos, Davies Graham, Blütters-Sawatzki Renate, Siegrist Claire-Anne, Ehlayel Mohammad S, Novelli Vas, Haas Walther H, Levy Jacob, Freihorst Joachim, Al-Hajjar Sami, Nadal David, De Moraes Vasconcelos Dewton, Jeppsson Olle, Kutukculer Necil, Frecerova Klara, Caragol Isabel, Lammas David, Kumararatne Dinakantha S, Abel Laurent, Casanova Jean-Laurent