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

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

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

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations

对38名患有先天性血液细胞减少症的儿童的292个候选基因进行靶向突变筛查,可有效识别新的致病突变。

Kager, Leo; Jimenez Heredia, Raúl; Hirschmugl, Tatjana; Dmytrus, Jasmin; Krolo, Ana; Müller, Heiko; Bock, Christoph; Zeitlhofer, Petra; Dworzak, Michael; Mann, Georg; Holter, Wolfgang; Haas, Oskar; Boztug, Kaan

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

CD55 缺乏症、早发性蛋白丢失性肠病和血栓形成

Ozen, Ahmet; Comrie, William A; Ardy, Rico C; Domínguez Conde, Cecilia; Dalgic, Buket; Beser, Ömer F; Morawski, Aaron R; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K; Zhang, Yu; Matthews, Helen F; Pittaluga, Stefania; Folio, Les R; Unlusoy Aksu, Aysel; McElwee, Joshua J; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B; Houwen, Roderick H J; Leavis, Helen L; Ertem, Deniz; Kain, Renate; Sari, Sinan; Erkan, Tülay; Su, Helen C; Boztug, Kaan; Lenardo, Michael J