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

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

部分隐性 IFN-γR1 缺乏症:来自 11 个家族的 14 名患者的遗传、免疫学和临床特征

Sologuren Ithaisa, Boisson-Dupuis Stéphanie, Pestano Jose, Vincent Quentin Benoit, Fernández-Pérez Leandro, Chapgier Ariane, Cárdenes María, Feinberg Jacqueline, García-Laorden M Isabel, Picard Capucine, Santiago Esther, Kong Xiaofei, Jannière Lucile, Colino Elena, Herrera-Ramos Estefanía, Francés Adela, Navarrete Carmen, Blanche Stéphane, Faria Emilia, Remiszewski Pawel, Cordeiro Ana, Freeman Alexandra, Holland Steven, Abarca Katia, Valerón-Lemaur Mónica, Gonçalo-Marques José, Silveira Luisa, García-Castellano José Manuel, Caminero José, Pérez-Arellano José Luis, Bustamante Jacinta, Abel Laurent, Casanova Jean-Laurent, Rodríguez-Gallego Carlos

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

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

利用 N-糖基化修饰剂对致病性 IFNGR2 错误折叠突变进行互补

Vogt Guillaume, Bustamante Jacinta, Chapgier Ariane, Feinberg Jacqueline, Boisson Dupuis Stephanie, Picard Capucine, Mahlaoui Nizar, Gineau Laure, Alcaïs Alexandre, Lamaze Christophe, Puck Jennifer M, de Saint Basile Geneviève, Khayat Claudia Djambas, Mikhael Raymond, Casanova Jean-Laurent