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

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

使用全基因组测序专门检测前 T 细胞受体 α 免疫缺陷

Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W Scherer, Chaim M Roifman

NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity

由于 RelB 表达降低导致 NFκB 通路失调,导致严重的自身免疫性疾病和免疫力下降

Nigel Sharfe, Ilan Dalal, Zahra Naghdi, Diane Lefaudeux, Linda Vong, Harjit Dadi, Hector Navarro, Diana Tasher, Adi Ovadia, Tzili Zangen, Dorit Ater, Bo Ngan, Alexander Hoffmann, Chaim M Roifman

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

病例报告:患有新型 STAT1 功能获得性致病变异的患者发生嗜酸性食管炎

Ori Scott, Nigel Sharfe, Harjit Dadi, Linda Vong, Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett Pachul, Sandra Nelles, Amit Nahum, Chaim M Roifman

Improving Skin cancer Management with ARTificial Intelligence (SMARTI): protocol for a preintervention/postintervention trial of an artificial intelligence system used as a diagnostic aid for skin cancer management in a specialist dermatology setting

利用人工智能改善皮肤癌管理(SMARTI):一项在专科皮肤科环境中,将人工智能系统用作皮肤癌诊断辅助工具的干预前/干预后试验方案

Felmingham, Claire; MacNamara, Samantha; Cranwell, William; Williams, Narelle; Wada, Miki; Adler, Nikki R; Ge, Zongyuan; Sharfe, Alastair; Bowling, Adrian; Haskett, Martin; Wolfe, Rory; Mar, Victoria

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

由新的纯合 NFKB1 突变引起的联合免疫缺陷

Amarilla B Mandola, Nigel Sharfe, Zahra Nagdi, Harjit Dadi, Linda Vong, Daniele Merico, Bo Ngan, Brenda Reid, Chaim M Roifman

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

两种不同的STAT1功能获得性突变导致不同的IFN-γ介导的基因表达

Ovadia, Adi; Sharfe, Nigel; Hawkins, Cynthia; Laughlin, Suzanne; Roifman, Chaim M

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

由白细胞介素-2受体α链突变引起的人类免疫系统疾病

Sharfe, N; Dadi, H K; Shahar, M; Roifman, C M

Jak3 activation in human lymphocyte precursor cells

人类淋巴细胞前体细胞中的 Jak3 激活

Sharfe, N; Dadi, H K; O'Shea, J J; Roifman, C M