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

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

遗传性GATA2缺陷通过单倍体不足表现为显性遗传,并表现出不完全临床外显率

Carmen Oleaga-Quintas ,Edgar Borges de Oliveira-Júnior # ,Jérémie Rosain # ,Franck Rapaport # ,Caroline Deswarte # ,Antoine Guérin # ,Sairaj Munavar Sajjath # ,Yu Jerry Zhou # ,Stéphane Marot # ,Claire Lozano # ,Lidia Branco ,Nuria Fernández-Hidalgo ,Dukhee Betty Lew ,Anne-Sophie Brunel ,Caroline Thomas ,Elise Launay ,Andrés Augusto Arias ,Alexis Cuffel ,Vanesa Cunill Monjo ,Anna-Lena Neehus ,Laura Marques ,Manon Roynard ,Marcela Moncada-Vélez ,Bengü Gerçeker ,Roger Colobran ,Marie-Gabrielle Vigué ,Gabriela Lopez-Herrera ,Laura Berron-Ruiz ,Nora Hilda Segura Méndez ,Patricia O'Farrill Romanillos ,Tom Le Voyer ,Anne Puel ,Christine Bellanné-Chantelot ,Kacy A Ramirez ,Lazaro Lorenzo-Diaz ,Noé Ramirez Alejo ,Rebeca Pérez de Diego ,Antonio Condino-Neto ,Fethi Mellouli ,Carlos Rodriguez-Gallego ,Torsten Witte ,José Franco Restrepo ,Mariana Jobim ,Stéphanie Boisson-Dupuis ,Eric Jeziorski ,Claire Fieschi ,Guillaume Vogt ,Jean Donadieu ,Marlène Pasquet ,Julia Vasconcelos ,Fatma Omur Ardeniz ,Mónica Martínez-Gallo ,Regis A Campos ,Luiz Fernando Jobim ,Rubén Martínez-Barricarte ,Kang Liu ,Aurélie Cobat # ,Laurent Abel # ,Jean-Laurent Casanova # ,Jacinta Bustamante

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

分枝杆菌病的孟德尔易感性:2014-2018 年最新进展

Rosain, Jérémie; Kong, Xiao-Fei; Martinez-Barricarte, Ruben; Oleaga-Quintas, Carmen; Ramirez-Alejo, Noé; Markle, Janet; Okada, Satoshi; Boisson-Dupuis, Stéphanie; Casanova, Jean-Laurent; Bustamante, Jacinta

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

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella

IL-12/IFN-γ轴的先天性缺陷与对分枝杆菌和沙门氏菌感染的易感性有关

Ramirez-Alejo, Noé; Santos-Argumedo, Leopoldo

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

IL-12Rβ1 缺乏症:突变更新和 IL12RB1 变异数据库描述

van de Vosse, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayşe; Garty, Ben Zion; Sun-Tan, Çağman; Broides, Arnon; de Paus, Roelof A; Keskin, Özlem; Çağdaş, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I; Levy, Jacov; Espinosa-Rosales, Francisco J; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; van Dissel, Jaap T; Bustamante, Jacinta