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

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study

造血干细胞移植治疗嘌呤核苷磷酸化酶缺乏症:一项EBMT-IEWP回顾性研究

Herrmann, Uli S; Felber, Matthias; Worth, Austen; Haskologlu, Sule; Dogu, Figen; Lewis, Victor A; Strahm, Brigitte; Groll, Andreas; Gennery, Andrew R; Hauck, Fabian; Wynn, Robert; Coussons, Mary; Meyts, Isabelle; Lindemans, Caroline; Bordon, Victoria; Bredius, Robbert G M; Kühl, Jörn-Sven; Völler, Mirjam; Zirngibl, Felix; Zaidman, Irina; Laberko, Alexandra; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Lankester, Arjan; Ikinciogullari, Aydan; Guilcher, Gregory M T; Hackenberg, Annette; Yeşilipek, Akif; Davies, Graham; Rao, Kanchan; Hershfield, Michael Steven; Parikh, Suhag H; Gilbert, Patrick; Bettoni da Cunha Riehm, Claudia; Albert, Michael H; Schulz, Ansgar S; Hönig, Manfred; Neven, Bénédicte; Güngör, Tayfun

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

TREC新生儿筛查中的综合征性先天性免疫缺陷:德国筛查项目的5年经验

Graafen, Lea; Speckmann, Carsten; Bakhtiar, Shahrzad; Bernuth, Horst V; Lehmberg, Kai; Bader, Peter; Baumann, Ulrich; Beier, Rita; Borte, Stephan; Brockow, Inken; Davies, E Graham; Hartmann, Maximilian; Holzer, Ursula; Klemann, Christian; Kreins, Alexandra Y; Krüger, Renate; Kontny, Udo; Laws, Hans-Jürgen; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Schneider, Dominik T; Willasch, Andre; Worth, Austen; Seidel, Markus G; Albert, Michael H; Ehl, Stephan; Hauck, Fabian; Hönig, Manfred; Schulz, Ansgar; Schuetz, Catharina; Ghosh, Sujal

Identifying virulent avian paramyxovirus type-1: A paediatric case of progressive encephalitis diagnosed by clinical metagenomics with case series review

鉴定强毒禽副黏病毒1型:一例通过临床宏基因组学诊断的儿童进行性脑炎病例及病例系列回顾

Brown, Julianne R; Ross, Craig S; Worth, Austen; Merve, Ashirwad; Storey, Nathaniel; Hacohen, Yael; Mankad, Kshitij; Kaliakatsos, Marios; Shendi, Hiba M; Atkinson, Laura; Gilmour, Kimberly; Hatcher, James; Lennon, Alexander; Bamford, Alasdair; Kusters, Maaike; Elfeky, Reem; Núñe, Alejandro; Brown, Ian H; Reid, Scott M; Cooper, Jayne; Byrne, Alexander M P; James, Joe; Lean, Fabian Zx; Banyard, Ashley C; Breuer, Judy

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

Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study

异基因造血干细胞移植治疗STAT3高IgE综合征:一项全球性研究

Tsilifis, Christo; Raedler, Johannes; Renke, Joanna; Medinger, Michael; Laberko, Alexandra; Haraldsson, Ásgeir; Patel, Niraj; Ciznar, Peter; Wong, Melanie; Keogh, Steven J; Gray, Paul; Mitchell, Richard; Bigley, Venetia; Elcombe, Suzanne; Hauck, Fabian; Albert, Michael H; Tholouli, Eleni; Herwadkar, Archana; Elkhalifa, Shuayb; Kosmidis, Chris; Callisti, Giorgio; Burroughs, Lauri M; Chen, Karin; Carpenter, Ben; Fox, Thomas A; Morris, Emma C; Uppuluri, Ramya; Raj, Revathi; Yanagimachi, Masakatsu; Buddingh, Emilie P; Oikonomopoulou, Christina; Gonzalez, Corina; Dimitrova, Dimana; Kanakry, Jennifer A; Arnold, Danielle; Pai, Sung-Yun; Slatter, Mary A; Pearce, Mark S; Worth, Austen; Freeman, Alexandra F; Gennery, Andrew R

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations

脑活检和宏基因组学在先天性免疫缺陷(IEI)和不明原因神经系统表现患者决策中的安全性和诊断效用

Maimaris, Jesmeen; Payne, Julia; Roa-Bautista, Adriel; Breuer, Judith; Storey, Nathaniel; Morfopoulou, Sofia; Bamford, Alasdair; D'Arco, Felice; Gilmour, Kimberly; Aquilina, Kristian; Hassell, Jane; Hacohen, Yael; Silva, Adikarige H D; Merve, Ashirwad; Jacques, Thomas S; Rao, Kanchan; Chiesa, Robert; Amrolia, Persis; Silva, Juliana; Braggins, Helen; Xu-Bayford, Jinhua; Goldblatt, David; Worth, Austen; Booth, Claire; Ip, Winnie; Qasim, Waseem; Kusters, Maaike; Kaliakatsos, Marios; Brown, Julianne R; Elfeky, Reem

Defining a CMV viral load threshold for pre-emptive therapy in paediatric haematopoietic stem cell transplant recipients

确定儿童造血干细胞移植受者预防性治疗的巨细胞病毒载量阈值

Duret, Amedine; Charles, Oscar; Margetts, Ben K; Booth, John; Brown, Julianne R; Best, Timothy; Fernandes, Sneha; Amrolia, Persis; Chiesa, Robert; Silva, Juliana; Worth, Austen; Standing, Joseph F; Rao, Kanchan; Whittaker, Elizabeth; Gil, Eliza; Breuer, Judith

Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性无胸腺症管理的影响

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y

Persistent Low-Level Variants in a Subset of Viral Genes Are Highly Predictive of Poor Outcome in Immunocompromised Patients With Cytomegalovirus Infection

病毒基因子集中持续存在的低水平变异体可高度预测免疫功能低下巨细胞病毒感染患者的不良预后

Venturini, Cristina; Colston, Julia M; Charles, Oscar; Lankina, Anastasia; Best, Timothy; Atkinson, Claire; Forrest, Calum; Williams, Charlotte A; Rao, Kanchan; Worth, Austen; Thorburn, Doug; Harber, Mark; Griffiths, Paul; Breuer, Judith

Favipiravir induces HuNoV viral mutagenesis and infectivity loss with clinical improvement in immunocompromised patients

法匹拉韦可诱导人诺如病毒发生突变并丧失感染性,从而改善免疫功能低下患者的临床症状。

Kreins, Alexandra Y; Roux, Emma; Pang, Juanita; Cheng, Iek; Charles, Oscar; Roy, Sunando; Mohammed, Reem; Owens, Stephen; Lowe, David M; Brugha, Rossa; Williams, Rachel; Howley, Evey; Best, Timothy; Davies, E Graham; Worth, Austen; Solas, Caroline; Standing, Joseph F; Goldstein, Richard A; Rocha-Pereira, Joana; Breuer, Judith