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Patrick Revy
Researcher at Paris Descartes University
Publications - 102
Citations - 9990
Patrick Revy is an academic researcher from Paris Descartes University. The author has contributed to research in topics: DNA repair & Telomere. The author has an hindex of 42, co-authored 95 publications receiving 8947 citations. Previous affiliations of Patrick Revy include University of Paris & French Institute of Health and Medical Research.
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Journal ArticleDOI
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Patrick Revy,Taro Muto,Yves Levy,Frederic Geissmann,Alessandro Plebani,Ozden Sanal,Nadia Catalan,Monique Forveille,Dufourcq-Lagelouse R,Andrew R. Gennery,Ilhan Tezcan,Fügen Ersoy,Hülya Kayserili,Alberto G. Ugazio,Nicole Brousse,Masamichi Muramatsu,Luigi D. Notarangelo,Kazuo Kinoshita,Tasuku Honjo,Alain Fischer,Anne Durandy +20 more
TL;DR: The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses.
Journal ArticleDOI
Interferon-gamma-receptor deficiency in an infant with fatal bacille calmette-guerin infection
Emmanuelle Jouanguy,Frédéric Altare,S Lamhamedi,Patrick Revy,Jean-François Emile,Melanie J. Newport,Michael Levin,Stéphane Blanche,Eric Seboun,Alain Fischer,Jean-Laurent Casanova +10 more
TL;DR: The attenuated strain of Mycobacterium bovis bacille Calmette–Guerin (BCG) is the most widely used vaccine in the world.
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Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Dietke Buck,Laurent Malivert,Régina de Chasseval,Anne Barraud,Marie-Claude Fondanèche,Ozden Sanal,Alessandro Plebani,Jean-Louis Stephan,Markus Hufnagel,Françoise Le Deist,Alain Fischer,Anne Durandy,Jean-Pierre de Villartay,Patrick Revy +13 more
TL;DR: Five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T+B lymphocytopenia are described and Cernunnos/XLF represents a novel DNA repair factor essential for the NHEJ pathway.
Journal ArticleDOI
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Stephanie Rigaud,Marie-Claude Fondanèche,Nathalie Lambert,Nathalie Lambert,Benoit Pasquier,Véronique Mateo,Pauline Soulas,Lionel Galicier,Françoise Le Deist,Françoise Le Deist,Frédéric Rieux-Laucat,Patrick Revy,Alain Fischer,Alain Fischer,Geneviève de Saint Basile,Sylvain Latour +15 more
TL;DR: By identifying an XLP immunodeficiency that is caused by mutations in XIAP, it is shown that XIAP is a potent regulator of lymphocyte homeostasis in vivo.
Journal ArticleDOI
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
Kohsuke Imai,Geir Slupphaug,Wen I. Lee,Wen I. Lee,Patrick Revy,Shigeaki Nonoyama,Nadia Catalan,Leman Yel,Monique Forveille,Bodil Kavli,Hans E. Krokan,Hans D. Ochs,Alain Fischer,Alain Fischer,Anne Durandy +14 more
TL;DR: It is shown that recessive mutations of the gene encoding uracil–DNA glycosylase (UNG) are associated with profound impairment in CSR at a DNA precleavage step and with a partial disturbance of the SHM pattern in three patients with hyper-IgM syndrome.