Article
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Science immunology - 20 Jan 2023
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
Abstract excerpt
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...
