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

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

T细胞检测在诊断细胞毒性淋巴细胞胞吐原发性缺陷中的有效性

Chiang, Samuel C C; Covill, Laura E; Tesi, Bianca; Campbell, Tessa M; Schlums, Heinrich; Nejati-Zendegani, Jelve; Mördrup, Karina; Wood, Stephanie; Theorell, Jakob; Sekine, Takuya; Al-Herz, Waleed; Akar, Himmet Haluk; Belen, Fatma Burcu; Chan, Mei Yoke; Devecioglu, Omer; Aksu, Tekin; Ifversen, Marianne; Malinowska, Iwona; Sabel, Magnus; Unal, Ekrem; Unal, Sule; Introne, Wendy J; Krzewski, Konrad; Gilmour, Kimberly C; Ehl, Stephan; Ljunggren, Hans-Gustaf; Nordenskjöld, Magnus; Horne, AnnaCarin; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T

Serum levels of interleukin-18, CXCL9 and IFN-γ in Still's disease complicated by macrophage activation syndrome

斯蒂尔病合并巨噬细胞活化综合征患者血清中白细胞介素-18、CXCL9和IFN-γ的水平

Turtsevich, Inga Z; Gilmour, Kimberly C; Hong, Ying; Eleftheriou, Despina; Brogan, Paul A

Case series: Congenital enterovirus infection-associated haemophagocytic lymphohistiocytosis and subsequent neutropaenia

病例系列:先天性肠道病毒感染相关噬血细胞性淋巴组织细胞增生症及继发性中性粒细胞减少症

Penner, Justin; Burns, James E; Breuer, Judith; Gilmour, Kimberly C; Bamford, Alasdair; Rao, Anupama

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease

炎症性肠病患者的染色体数目异常和罕见拷贝数变异

Dirvanskyte, Paulina; Gurram, Bhaskar; Bolton, Chrissy; Warner, Neil; Jones, Kelsey D J; Griffin, Helen R; Park, Jason Y; Keller, Klaus-Michael; Gilmour, Kimberly C; Hambleton, Sophie; Muise, Aleixo M; Wysocki, Christian; Uhlig, Holm H

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

SGPL1和STAT1基因合并的新型纯合变异导致重症联合免疫缺陷:病例报告及文献综述

Roa-Bautista, Adriel; Sohail, Mahreen; Wakeling, Emma; Gilmour, Kimberly C; Davis, Mark; Gait, Anthony; Lucchini, Giovanna; Cox, David; Elfeky, Reem; Kusters, Maaike

Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

作者更正:体细胞嵌合现象和常见遗传变异会增加极早发性炎症性肠病的风险。

Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K; Barakat, Farah; Auth, Marcus K H; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P; Satsangi, Jack; Parkes, Miles; Thapar, Nikhil; Ferry, Helen; Matte, Julie C; Gilmour, Kimberly C; Wedrychowicz, Andrzej; Sullivan, Peter; Moore, Carmel; Sambrook, Jennifer; Ouwehand, Willem; Roberts, David; Danesh, John; Baeumler, Toni A; Fulga, Tudor A; Carrami, Eli M; Ahmed, Ahmed; Wilson, Rachel; Barrett, Jeffrey C; Elkadri, Abdul; Griffiths, Anne M; Snapper, Scott B; Shah, Neil; Muise, Aleixo M; Wilson, David C; Uhlig, Holm H; Anderson, Carl A

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

针对特定先天性免疫缺陷群体,对人类表型本体进行整理和扩展

Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A A; Elfeky, Reem; Trück, Johannes; Rivière, Jacques G; van der Burg, Mirjam; Gattorno, Marco; Seidel, Markus G; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; de Vries, Esther; Robinson, Peter N; van Gijn, Marielle; Boztug, Kaan

Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency

自体体外慢病毒基因疗法治疗腺苷脱氨酶缺乏症

Kohn, Donald B; Booth, Claire; Shaw, Kit L; Xu-Bayford, Jinhua; Garabedian, Elizabeth; Trevisan, Valentina; Carbonaro-Sarracino, Denise A; Soni, Kajal; Terrazas, Dayna; Snell, Katie; Ikeda, Alan; Leon-Rico, Diego; Moore, Theodore B; Buckland, Karen F; Shah, Ami J; Gilmour, Kimberly C; De Oliveira, Satiro; Rivat, Christine; Crooks, Gay M; Izotova, Natalia; Tse, John; Adams, Stuart; Shupien, Sally; Ricketts, Hilory; Davila, Alejandra; Uzowuru, Chilenwa; Icreverzi, Amalia; Barman, Provaboti; Campo Fernandez, Beatriz; Hollis, Roger P; Coronel, Maritess; Yu, Allen; Chun, Krista M; Casas, Christian E; Zhang, Ruixue; Arduini, Serena; Lynn, Frances; Kudari, Mahesh; Spezzi, Andrea; Zahn, Marco; Heimke, Rene; Labik, Ivan; Parrott, Roberta; Buckley, Rebecca H; Reeves, Lilith; Cornetta, Kenneth; Sokolic, Robert; Hershfield, Michael; Schmidt, Manfred; Candotti, Fabio; Malech, Harry L; Thrasher, Adrian J; Gaspar, H Bobby

Flow Cytometry Confirmation Post Newborn Screening for SCID in England

英国新生儿SCID筛查后流式细胞术确认

Gilmour, Kimberly C