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

Malignancy-associated hemophagocytic lymphohistiocytosis in Sweden: incidence, clinical characteristics, and survival

瑞典恶性肿瘤相关噬血细胞性淋巴组织细胞增生症:发病率、临床特征和生存率

Löfstedt, Alexandra; Jädersten, Martin; Meeths, Marie; Henter, Jan-Inge

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

Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

出版商更正:人类 DEF6 缺陷是导致免疫缺陷综合征(伴有系统性自身免疫和 CTLA-4 稳态异常)的根本原因。

Serwas, Nina K; Hoeger, Birgit; Ardy, Rico C; Stulz, Sigrun V; Sui, Zhenhua; Memaran, Nima; Meeths, Marie; Krolo, Ana; Petronczki, Özlem Yüce; Pfajfer, Laurène; Hou, Tie Z; Halliday, Neil; Santos-Valente, Elisangela; Kalinichenko, Artem; Kennedy, Alan; Mace, Emily M; Mukherjee, Malini; Tesi, Bianca; Schrempf, Anna; Pickl, Winfried F; Loizou, Joanna I; Kain, Renate; Bidmon-Fliegenschnee, Bettina; Schickel, Jean-Nicolas; Glauzy, Salomé; Huemer, Jakob; Garncarz, Wojciech; Salzer, Elisabeth; Pierides, Iro; Bilic, Ivan; Thiel, Jens; Priftakis, Peter; Banerjee, Pinaki P; Förster-Waldl, Elisabeth; Medgyesi, David; Huber, Wolf-Dietrich; Orange, Jordan S; Meffre, Eric; Sansom, David M; Bryceson, Yenan T; Altman, Amnon; Boztug, Kaan

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

人类 DEF6 缺乏是导致系统性自身免疫和 CTLA-4 稳态异常的免疫缺陷综合征的根本原因

Nina K Serwas, Birgit Hoeger, Rico C Ardy, Sigrun V Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Z Hou, Neil Halliday, Elisangela Santos-Valente, Artem Kalinichenko, Alan Kennedy, Emily M Mace, Malini Mukherjee, Bianca Tesi, Anna Schrempf, Wi

Haploinsufficiency of UNC13D increases the risk of lymphoma

UNC13D单倍体不足会增加淋巴瘤的风险

Löfstedt, Alexandra; Ahlm, Clas; Tesi, Bianca; Bergdahl, Ingvar A; Nordenskjöld, Magnus; Bryceson, Yenan T; Henter, Jan-Inge; Meeths, Marie

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

Chediak-Higashi综合征患者的细胞毒性T细胞和NK细胞颗粒形态存在差异,但胞吐作用均受损

Chiang, Samuel C C; Wood, Stephanie M; Tesi, Bianca; Akar, Himmet Haluk; Al-Herz, Waleed; Ammann, Sandra; Belen, Fatma Burcu; Caliskan, Umran; Kaya, Zühre; Lehmberg, Kai; Patiroglu, Turkan; Tokgoz, Huseyin; Ünüvar, Ayşegül; Introne, Wendy J; Henter, Jan-Inge; Nordenskjöld, Magnus; Ljunggren, Hans-Gustaf; Meeths, Marie; Ehl, Stephan; Krzewski, Konrad; Bryceson, Yenan T

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

靶向高通量测序用于噬血细胞性淋巴组织细胞增生症的基因诊断

Tesi, Bianca; Lagerstedt-Robinson, Kristina; Chiang, Samuel C C; Ben Bdira, Eya; Abboud, Miguel; Belen, Burcu; Devecioglu, Omer; Fadoo, Zehra; Yeoh, Allen E J; Erichsen, Hans Christian; Möttönen, Merja; Akar, Himmet Haluk; Hästbacka, Johanna; Kaya, Zuhre; Nunes, Susana; Patiroglu, Turkan; Sabel, Magnus; Saribeyoglu, Ebru Tugrul; Tvedt, Tor Henrik; Unal, Ekrem; Unal, Sule; Unuvar, Aysegul; Meeths, Marie; Henter, Jan-Inge; Nordenskjöld, Magnus; Bryceson, Yenan T

Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

与原发性免疫缺陷相关的内含子突变会破坏细胞毒性淋巴细胞中 Munc13-4 表达的转录调控

Frank Cichocki, Heinrich Schlums, Hongchuan Li, Vanessa Stache, Timothy Holmes, Todd R Lenvik, Samuel C C Chiang, Jeffrey S Miller, Marie Meeths, Stephen K Anderson, Yenan T Bryceson

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

STX11 中的 N 端错义突变导致 FHL4 消除了 Syntaxin-11 与 Munc18-2 的结合

Martha-Lena Müller, Samuel C C Chiang, Marie Meeths, Bianca Tesi, Miriam Entesarian, Daniel Nilsson, Stephanie M Wood, Magnus Nordenskjöld, Jan-Inge Henter, Ahmed Naqvi, Yenan T Bryceson

Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations

成人双等位基因STXBP2突变患者发生经典型霍奇金淋巴瘤

Machaczka, Maciej; Klimkowska, Monika; Chiang, Samuel C C; Meeths, Marie; Müller, Martha-Lena; Gustafsson, Britt; Henter, Jan-Inge; Bryceson, Yenan T