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Jean-Pierre de Villartay
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Journal Articles

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Kazushi Izawa, Emmanuel Martin, Claire Soudais, Julie Bruneau, David Boutboul, Rémy Rodriguez, Christelle Lenoir, Andrew D. Hislop, Caroline Besson, Fabien Touzot, Capucine Picard, Isabelle Callebaut, Jean-Pierre de Villartay, Despina Moshous, Alain Fischer, Sylvain Latour
Journal: Journal of Experimental Medicine
J Exp Med (2016) 214 (1): 73–89.
https://doi.org/10.1084/jem.20160784
Published: 23 December 2016
View article titled, Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
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Journal Articles

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

Shu Zhang, Corinne Pondarre, Gaelle Pennarun, Helene Labussiere-Wallet, Gabriella Vera, Benoit France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard Lopez, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean-Pierre de Villartay
Journal: Journal of Experimental Medicine
J Exp Med (2016) 213 (6): 1011–1028.
https://doi.org/10.1084/jem.20151183
Published: 16 May 2016
View article titled, A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
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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 article titled, 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

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (13): 2323–2330.
https://doi.org/10.1084/jem.20121303
Published: 10 December 2012
View article titled, Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)
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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 article titled, Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis
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Includes: Supplementary data
Journal Articles

Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination

Pauline Soulas-Sprauel, Gwenaël Le Guyader, Paola Rivera-Munoz, Vincent Abramowski, Christelle Olivier-Martin, Cécile Goujet-Zalc, Pierre Charneau, Jean-Pierre de Villartay
Journal: Journal of Experimental Medicine
J Exp Med (2007) 204 (7): 1717–1727.
https://doi.org/10.1084/jem.20070255
Published: 02 July 2007
View article titled, Role for DNA repair factor XRCC4 in 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 article titled, A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
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Journal Articles

The Metallo-β-Lactamase/β-CASP Domain of Artemis Constitutes the Catalytic Core for V(D)J Recombination

Catherine Poinsignon, Despina Moshous, Isabelle Callebaut, Régina de Chasseval, Isabelle Villey, Jean-Pierre de Villartay
Journal: Journal of Experimental Medicine
J Exp Med (2004) 199 (3): 315–321.
https://doi.org/10.1084/jem.20031142
Published: 26 January 2004
View article titled, The Metallo-β-Lactamase/β-CASP Domain of Artemis Constitutes the Catalytic Core for V(D)J Recombination
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Journal Articles

A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency

Nathalie Nicolas, Despina Moshous, Marina Cavazzana-Calvo, Dora Papadopoulo, Régina de Chasseval, Françoise Le Deist, Alain Fischer, Jean-Pierre de Villartay
Journal: Journal of Experimental Medicine
J Exp Med (1998) 188 (4): 627–634.
https://doi.org/10.1084/jem.188.4.627
Published: 17 August 1998
View article titled, A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency
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