A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
-
Altmetric Citations
Fornes, Oriol; Jia, Alicia; Kuehn, Hye Sun; Min, Qing; Pannicke, Ulrich; Schleussner, Nikolai; Thouenon, Romane; Yu, Zhijia; de Los Angeles Astbury, María; Biggs, Catherine M; Galicchio, Miguel; Garcia-Campos, Jorge Alberto; Gismondi, Silvina; Gonzalez Villarreal, Guadalupe; Hildebrand, Kyla J; Hönig, Manfred; Hou, Jia; Moshous, Despina; Pittaluga, Stefania; Qian, Xiaowen; Rozmus, Jacob; Schulz, Ansgar S; Staines-Boone, Aidé Tamara; Sun, Bijun; Sun, Jinqiao; Uwe, Schauer; Venegas-Montoya, Edna; Wang, Wenjie; Wang, Xiaochuan; Ying, Wenjing; Zhai, Xiaowen; Zhou, Qinhua; Akalin, Altuna; André, Isabelle; Barth, Thomas F E; Baumann, Bernd; Brüstle, Anne; Burgio, Gaetan; Bustamante, Jacinta C; Casanova, Jean-Laurent; Casarotto, Marco G; Cavazzana, Marina; Chentout, Loïc; Cockburn, Ian A; Costanza, Mariantonia; Cui, Chaoqun; Daumke, Oliver; Del Bel, Kate L; Eibel, Hermann; Feng, Xiaoqian; Franke, Vedran; Gebhardt, J Christof M; Götz, Andrea; Grunwald, Stephan; Hoareau, Bénédicte; Hughes, Timothy R; Jacobsen, Eva-Maria; Janz, Martin; Jolma, Arttu; Lagresle-Peyrou, Chantal; Lai, Nannan; Li, Yaxuan; Lin, Susan; Lu, Henry Y; Lugo-Reyes, Saul O; Meng, Xin; Möller, Peter; Moreno-Corona, Nidia; Niemela, Julie E; Novakovsky, Gherman; Perez-Caraballo, Jareb J; Picard, Capucine; Poggi, Lucie; Puig-Lombardi, Maria-Emilia; Randall, Katrina L; Reisser, Anja; Schmitt, Yohann; Seneviratne, Sandali; Sharma, Mehul; Stoddard, Jennifer; Sundararaj, Srinivasan; Sutton, Harry; Tran, Linh Q; Wang, Ying; Wasserman, Wyeth W; Wen, Zichao; Winkler, Wiebke; Xiong, Ermeng; Yang, Ally W H; Yu, Meiping; Zhang, Lumin; Zhang, Hai; Zhao, Qian; Zhen, Xin; Enders, Anselm; Kracker, Sven; Martinez-Barricarte, Ruben; Mathas, Stephan; Rosenzweig, Sergio D; Schwarz, Klaus; Turvey, Stuart E; Wang, Ji-Yang
Description
Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in seven patients from six unrelated families. The patients exhibited profound susceptibility to opportunistic infections, notably Pneumocystis jirovecii, and presented with agammaglobulinemia. Patients' B cells showed impaired maturation,...[Show more]
Collections | ANU Research Publications |
---|---|
Date published: | 2023-01-20 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/311747 |
Source: | Science immunology |
DOI: | 10.1126/sciimmunol.ade7953 |
Download
File | Description | Size | Format | Image |
---|---|---|---|---|
Consortium-Science Immunology-2023_1.pdf | Main article | 2.21 MB | Adobe PDF | Request a copy |
Consortium-Science Immunology-2023.pdf | Supplementary Data | 5.07 MB | Adobe PDF | Request a copy |
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator