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Jauch, Annaïse J; Bignucolo, Olivier; Seki, Sayuri; Ghraichy, Marie; Delmonte, Ottavia M; von Niederhäusern, Valentin; Higgins, Rebecca; Ghosh, Adhideb; Nishizawa, Masako; Tanaka, Mariko; Baldrich, Adrian; Köppen, Julius; Hirsiger, Julia R; Hupfer, Robin; Ehl, Stephan; Rensing-Ehl, Anne; Hopfer, Helmut; Prince, Spasenija Savic; Daley, Stephen R; Marquardsen, Florian A; ... (2023). Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency. The Journal of allergy and clinical immunology, 152(2), pp. 500-516. Elsevier 10.1016/j.jaci.2023.03.022
Speckmann, Carsten; Sahoo, Sushree Sangita; Rizzi, Marta; Hirabayashi, Shinsuke; Karow, Axel; Serwas, Nina Kathrin; Hoemberg, Marc; Damatova, Natalja; Schindler, Detlev; Vannier, Jean-Baptiste; Boulton, Simon J; Pannicke, Ulrich; Göhring, Gudrun; Thomay, Kathrin; Verdu-Amoros, J J; Hauch, Holger; Woessmann, Wilhelm; Escherich, Gabriele; Laack, Eckart; Rindle, Liliana; ... (2017). Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Frontiers in immunology, 8(449), p. 449. Frontiers Research Foundation 10.3389/fimmu.2017.00449
