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Anne Durandy
Researcher at French Institute of Health and Medical Research
Publications - 169
Citations - 16570
Anne Durandy is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Immunoglobulin class switching & Somatic hypermutation. The author has an hindex of 58, co-authored 167 publications receiving 15464 citations. Previous affiliations of Anne Durandy include Paris Descartes University & Necker-Enfants Malades Hospital.
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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
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
Frédéric Altare,Anne Durandy,David A. Lammas,J.F. Emile,S Lamhamedi,Françoise Le Deist,Pam Drysdale,Emmanuelle Jouanguy,Rainer Doffinger,Françoise Bernaudin,Olle Jeppsson,Jared Gollob,Edgar Meinl,Antony W. Segal,Alain Fischer,Dinakantha S. Kumararatne,Jean-Laurent Casanova +16 more
TL;DR: Interleukin-12 (IL-12) receptor deficiency was found in otherwise healthy individuals with mycobacterial infections, and mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells.
Journal ArticleDOI
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Rainer Doffinger,Asma Smahi,Christine Bessia,Frederic Geissmann,Jacqueline Feinberg,Anne Durandy,Christine Bodemer,Sue Kenwrick,Sophie Dupuis-Girod,Stéphane Blanche,Philip A. Wood,Smail Hadj Rabia,Denis J. Headon,Paul A. Overbeek,Françoise Le Deist,Steven M. Holland,Kiran Belani,Dinakantha S. Kumararatne,Alain Fischer,Ralph S. Shapiro,Mary Ellen Conley,Eric Reimund,Hermann Kalhoff,Mario Abinun,Arnold Munnich,Alain Israël,Gilles Courtois,Jean-Laurent Casanova +27 more
TL;DR: It is reported for the first time that impaired but not abolished NF-κB signaling in humans results in two related syndromes that associate specific developmental and immunological defects.
Journal ArticleDOI
The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage
Grant S. Stewart,Stephanie Panier,Stephanie Panier,Kelly Townsend,Abdallah Al-Hakim,Nadine K. Kolas,Edward S. Miller,Shinichiro Nakada,Jarkko Ylanko,Jarkko Ylanko,Signe Olivarius,Megan Mendez,Ceri E. Oldreive,Jan Wildenhain,Andrea Tagliaferro,Laurence Pelletier,Laurence Pelletier,Nadine Taubenheim,Anne Durandy,Philip J. Byrd,Tatjana Stankovic,A. Malcolm R. Taylor,Daniel Durocher,Daniel Durocher +23 more
TL;DR: It is reported that the ubiquitin ligase RNF168 is mutated in the RIDDLE syndrome, a recently discovered immunodeficiency and radiosensitivity disorder and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDdLE syndrome.
Journal ArticleDOI
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.