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

Association of NK cell subsets and cytotoxicity with FCGR3A gene polymorphism in functional NK cell deficiency

功能性 NK 细胞缺陷中 NK 细胞亚群和细胞毒性与 FCGR3A 基因多态性的关联

Mehmet Ali Karaselek, Ercan Kurar, Sevgi Keleş, Şükrü Nail Güner, İsmail Reisli

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

由DNA聚合酶δ1功能丧失突变引起的联合免疫缺陷

Ye Cui ,Sevgi Keles ,Louis-Marie Charbonnier ,Amélie M Julé ,Lauren Henderson ,Seyma Celikbilek Celik ,Ismail Reisli ,Chen Shen ,Wen Jun Xie ,Klaus Schmitz-Abe ,Hao Wu ,Talal A Chatila

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

对麻疹和黄热病活疫苗产生不良反应的健康患者患有遗传性 IFNAR1 缺陷

Nicholas Hernandez #, Giorgia Bucciol #, Leen Moens #, Jérémie Le Pen #, Mohammad Shahrooei #, Ekaterini Goudouris #, Afshin Shirkani #, Majid Changi-Ashtiani #, Hassan Rokni-Zadeh #, Esra Hazar Sayar, Ismail Reisli, Alain Lefevre-Utile, Dick Zijlmans, Andrea Jurado, Ruben Pholien, Scott Drutman, Se

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects

F-BAR 结构域唯一蛋白 1 (FCHO1) 缺乏是人类联合免疫缺陷的新原因

Enrica Calzoni, Craig D Platt, Sevgi Keles, Hye Sun Kuehn, Sarah Beaussant-Cohen, Yu Zhang, Julia Pazmandi, Gaetana Lanzi, Francesca Pala, Azzeddine Tahiat, Hasibe Artac, Raul Jimenez Heredia, Jasmin Dmytrus, Ismail Reisli, Vedat Uygun, Dilara Uygun, Aysen Bingol, Erdem Basaran, Kamel Djenouhat, Naf

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome

皮层神经元死亡的时空梯度导致连接酶4综合征敲入小鼠模型出现小头畸形

Melody P Lun ,Morgan L Shannon ,Sevgi Keles ,Ismail Reisli ,Nicole Luche ,Douglas Ryan ,Kelly Capuder ,Luigi D Notarangelo ,Maria K Lehtinen

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function

CD3G 突变患者揭示人类 CD3γ 在 Treg 多样性和抑制功能中的作用

Jared H Rowe, Ottavia M Delmonte, Sevgi Keles, Brian D Stadinski, Adam K Dobbs, Lauren A Henderson, Yasuhiro Yamazaki, Luis M Allende, Francisco A Bonilla, Luis I Gonzalez-Granado, Seyma Celikbilek Celik, Sukru N Guner, Hasan Kapakli, Christina Yee, Sung-Yun Pai, Eric S Huseby, Ismail Reisli, Jose R

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation

胞质分裂因子8调控信号转导和转录激活因子3活化,促进TH17细胞分化

Sevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, Ismail Reisli, Ferah Genel, Nesrin Gulez, Waleed Al-Herz, Narayanaswamy Ramesh, Antonio Perez-Atayde, Neslihan E Karaca, Necil Kutukculer, Hao Wu, Raif S Geha, Talal A Chatila0

CD19 controls Toll-like receptor 9 responses in human B cells

CD19 控制人类 B 细胞中的 Toll 样受体 9 反应

Henner Morbach, Jean-Nicolas Schickel, Charlotte Cunningham-Rundles, Mary Ellen Conley, Ismail Reisli, Jose Luis Franco, Eric Meffre

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

CDCA7 和 HELLS 突变导致免疫缺陷-着丝粒不稳定-面部异常综合征

Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J L F Lemmers, Jessica C de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila K

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

自然发生的 DCLRE1C 突变的功能分析及其与 ARTEMIS 缺乏症临床表型的相关性

Kerstin Felgentreff, Yu Nee Lee, Francesco Frugoni, Likun Du, Mirjam van der Burg, Silvia Giliani, Ilhan Tezcan, Ismail Reisli, Ester Mejstrikova, Jean-Pierre de Villartay, Barry P Sleckman, John Manis, Luigi D Notarangelo