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Journal Articles

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

In Special Collection:
Genes and Immunity
Evi Duthoo, Elien Beyls, Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere, Sebastian Riemann, Bram Parton, Likun Du, Veronique Debacker, Marieke De Bruyne, Levi Hoste, Ans Baeyens, Anne Vral, Eva Van Braeckel, Jens Staal, Geert Mortier, Tessa Kerre, Qiang Pan-Hammarström, Claus S. Sørensen, Filomeen Haerynck, Kathleen B.M. Claes, Simon J. Tavernier
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241432.
https://doi.org/10.1084/jem.20241432
Published: 03 March 2025
View articletitled, Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Includes: Supplementary data
Journal Articles

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelik, Sevgi Keles, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, COVID Human Genetic Effort, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan-Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean-Laurent Casanova, Olov Ekwall, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20231725.
https://doi.org/10.1084/jem.20231725
Published: 18 July 2024
View articletitled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
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Includes: Supplementary data
Journal Articles

Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome

Angela Helfricht, Peter E. Thijssen, Magdalena B. Rother, Rashmi G. Shah, Likun Du, Sanami Takada, Mélanie Rogier, Jacques Moritz, Hanna IJspeert, Chantal Stoepker, Monique M. van Ostaijen-ten Dam, Vincent Heyer, Martijn S. Luijsterburg, Anton de Groot, Rianca Jak, Gwendolynn Grootaers, Jun Wang, Pooja Rao, Alfred C.O. Vertegaal, Maarten J.D. van Tol, Qiang Pan-Hammarström, Bernardo Reina-San-Martin, Girish M. Shah, Mirjam van der Burg, Silvère M. van der Maarel, Haico van Attikum
Journal: Journal of Experimental Medicine
J Exp Med (2020) 217 (11): e20191688.
https://doi.org/10.1084/jem.20191688
Published: 31 August 2020
View articletitled, Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome
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Includes: Supplementary data
Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (3): 623–637.
https://doi.org/10.1084/jem.20161525
Published: 01 February 2017
View articletitled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
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Includes: Supplementary data
Journal Articles

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Hassan Abolhassani, Emily S.J. Edwards, Aydan Ikinciogullari, Huie Jing, Stephan Borte, Marcus Buggert, Likun Du, Mami Matsuda-Lennikov, Rosa Romano, Rozina Caridha, Sangeeta Bade, Yu Zhang, Juliet Frederiksen, Mingyan Fang, Sevgi Kostel Bal, Sule Haskologlu, Figen Dogu, Nurdan Tacyildiz, Helen F. Matthews, Joshua J. McElwee, Emma Gostick, David A. Price, Umaimainthan Palendira, Asghar Aghamohammadi, Bertrand Boisson, Nima Rezaei, Annika C. Karlsson, Michael J. Lenardo, Jean-Laurent Casanova, Lennart Hammarström, Stuart G. Tangye, Helen C. Su, Qiang Pan-Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2016) 214 (1): 91–106.
https://doi.org/10.1084/jem.20160849
Published: 23 December 2016
View articletitled, Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency
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Includes: Supplementary data
Journal Articles

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, Aurélie Cobat, Nadine Tarantino, Melissa Hazen, Hart G.W. Lidov, Gregory Hopkins, Likun Du, Aziz Belkadi, Maya Chrabieh, Yuval Itan, Capucine Picard, Jean-Christophe Fournet, Hermann Eibel, Erdyni Tsitsikov, Sung-Yun Pai, Laurent Abel, Waleed Al-Herz, Jean-Laurent Casanova, Alain Israel, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2015) 212 (6): 939–951.
https://doi.org/10.1084/jem.20141130
Published: 25 May 2015
View articletitled, Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
Open the PDF for Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia in another window
Includes: Supplementary data
Journal Articles

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Elin Enervald, Likun Du, Torkild Visnes, Andrea Björkman, Emma Lindgren, Josephine Wincent, Guntram Borck, Laurence Colleaux, Valerie Cormier-Daire, Dik C. van Gent, Juan Pie, Beatriz Puisac, Noel FCC de Miranda, Sven Kracker, Lennart Hammarström, Jean-Pierre de Villartay, Anne Durandy, Jacqueline Schoumans, Lena Ström, Qiang Pan-Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2013) 210 (12): 2503–2513.
https://doi.org/10.1084/jem.20130168
Published: 21 October 2013
View articletitled, A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
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Includes: Supplementary data
Journal Articles

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

Likun Du, Roujun Peng, Andrea Björkman, Noel Filipe de Miranda, Cornelia Rosner, Ashwin Kotnis, Mattias Berglund, Chonghai Liu, Richard Rosenquist, Gunilla Enblad, Christer Sundström, Mohammad Hojjat-Farsangi, Hodjattallah Rabbani, Manuel R. Teixeira, Patrick Revy, Anne Durandy, Yixin Zeng, Andrew R. Gennery, Jean-Pierre de Villartay, Qiang Pan-Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (2): 291–305.
https://doi.org/10.1084/jem.20110325
Published: 06 February 2012
View articletitled, Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis
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Includes: Supplementary data
Journal Articles

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

Likun Du, Mirjam van der Burg, Sergey W. Popov, Ashwin Kotnis, Jacques J.M. van Dongen, Andrew R. Gennery, Qiang Pan-Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2008) 205 (13): 3031–3040.
https://doi.org/10.1084/jem.20081915
Published: 15 December 2008
View articletitled, Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination
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Includes: Supplementary data
Journal Articles

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besançon, Malika Benkerrou, Jean-Pierre de Villartay, Alain Fischer, Patrick Revy, Anne Durandy
Journal: Journal of Experimental Medicine
J Exp Med (2007) 204 (5): 1207–1216.
https://doi.org/10.1084/jem.20070087
Published: 07 May 2007
View articletitled, A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
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Journal Articles

Correction

Qiang Pan-Hammarström, Aleksi Lähdesmäki, Yaofeng Zhao, Likun Du, Zhihui Zhao, Sicheng Wen, Victor L. Ruiz-Perez, Deborah K. Dunn-Walters, Judith A. Goodship, Lennart Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2006) 203 (1): 251.
https://doi.org/10.1084/jem.20050595010606c
Published: 17 January 2006
View articletitled, Correction
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Journal Articles

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

Qiang Pan-Hammarström, Aleksi Lähdesmäki, Yaofeng Zhao, Likun Du, Zhihui Zhao, Sicheng Wen, Victor L. Ruiz-Perez, Deborah K. Dunn-Walters, Judith A. Goodship, Lennart Hammarström
Journal: Journal of Experimental Medicine
J Exp Med (2006) 203 (1): 99–110.
https://doi.org/10.1084/jem.20050595
Published: 03 January 2006
View articletitled, Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation
Open the PDF for Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation in another window
Includes: Supplementary data