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

Precision T cell correction platform for inborn errors of immunity

用于治疗先天性免疫缺陷的精准T细胞纠正平台

Mamia, Katariina; Kolbeinsdottir, Solrun; Labun, Kornel; Li, Zhuokun; Komisarczuk, Anna; Keskitalo, Salla; Reint, Ganna; Loe Haugen, Frida; Olaug Lindestad, Britt; Skundberg Jensen, Siv; Gjerdingen, Thea Johanne; Tuhkala, Antti; Wieczorek Ervik, Carolina; Kopcil, Pavel; Fatkhutdinov, Nail; Bronken Martinsen, Karen Helene; Erichsen, Hans Christian; Szymanska, Monika; Tölö, Eero; Glumoff, Virpi; Saarela, Janna; Melbye Michelsen, Trond; Schalin-Jäntti, Camilla; Olweus, Johanna; Leinonen, Eira; Varjosalo, Markku; Valen, Eivind; Hautala, Timo; Enge, Martin; Martelius, Timi; Dahal-Koirala, Shiva; Haapaniemi, Emma

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

STAT3 N 端结构域突变家族中的肺曲霉病和低 HIES 评分

Lima de Souza, Suiane; Asano, Takaki; Glumoff, Virpi; Keskitalo, Salla; Pikkarainen, Keela; Martelius, Timi; Kaustio, Meri; Saarela, Janna; Kuismin, Outi; Lappi-Blanco, Elisa; Jartti, Airi; Yannopoulos, Fredrik; Tiitto, Leena; Seppänen, Mikko R J; Boisson, Bertrand; Casanova, Jean-Laurent; Varjosalo, Markku; Hautala, Timo; Chen, Zhi

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study

支气管扩张、低IgG水平和未接种疫苗是X连锁无丙种球蛋白血症患者新冠肺炎住院的危险因素——一项回顾性多中心研究

Stenlander, Caroline; Lindahl, Hannes; Wahren-Borgström, Emelie; Geier, Christoph B; Sediva, Anna; Fevang, Børre; Milito, Cinzia; Varandas, Cláudia; Roca-Oporto, Cristina; Pulvirenti, Federica; Hodl, Isabel; Malkusova, Ivana; Rivière, Jacques G; Litzman, Jiri; Walter, Jolan E; Hanitsch, Leif G; Neth, Olaf; Kralickova, Pavlina; Miller, Rahim; Shaffren, Serena; Silva, Susana L; Katzenstein, Terese; Martelius, Timi; Steiner, Urs C; Smith, C I Edvard; Warnatz, Klaus; Bergman, Peter

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

单基因早发性淋巴增殖和自身免疫:STAT3功能获得综合征的自然史

Leiding, Jennifer W; Vogel, Tiphanie P; Santarlas, Valentine G J; Mhaskar, Rahul; Smith, Madison R; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M; Sharapova, Svetlana O; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S; Flanagan, Sarah E; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E; Allenspach, Eric; Romberg, Neil; Deane, Sean G; Prince, Benjamin T; Rose, Melissa J; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M; Chang Berger, Amy; Briggs, Tracy A; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C; Desai, Mukesh M; Fischer, Ute; Fulcher, David A; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko R J; Torgerson, Troy R; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G; Cooper, Megan A; Milner, Joshua D; Forbes Satter, Lisa R

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study

软骨毛发发育不全患者的肺部随访影像学检查:一项前瞻性队列研究

Vakkilainen, Svetlana; Klemetti, Paula; Martelius, Timi; Seppänen, Mikko Jr; Mäkitie, Outi; Toiviainen-Salo, Sanna

Somatic mutations and T-cell clonality in patients with immunodeficiency

免疫缺陷患者的体细胞突变和T细胞克隆性

Savola, Paula; Martelius, Timi; Kankainen, Matti; Huuhtanen, Jani; Lundgren, Sofie; Koski, Yrjö; Eldfors, Samuli; Kelkka, Tiina; Keränen, Mikko A I; Ellonen, Pekka; Kovanen, Panu E; Kytölä, Soili; Saarela, Janna; Lähdesmäki, Harri; Seppänen, Mikko R J; Mustjoki, Satu

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

常见变异型免疫缺陷症中胃肠道表现的高发率

Pikkarainen, Sampsa; Martelius, Timi; Ristimäki, Ari; Siitonen, Sanna; Seppänen, Mikko R J; Färkkilä, Martti

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

罕见病诊断:全外显子组测序揭示端粒生物学疾病中的基因位点异质性

Trotta, Luca; Norberg, Anna; Taskinen, Mervi; Béziat, Vivien; Degerman, Sofie; Wartiovaara-Kautto, Ulla; Välimaa, Hannamari; Jahnukainen, Kirsi; Casanova, Jean-Laurent; Seppänen, Mikko; Saarela, Janna; Koskenvuo, Minna; Martelius, Timi

Clinical characteristics of patients with Epstein Barr virus in cerebrospinal fluid

脑脊液中EB病毒阳性患者的临床特征

Martelius, Timi; Lappalainen, Maija; Palomäki, Maarit; Anttila, Veli-Jukka