10 results on '"Anne Durandy"'
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2. Contributors
- Author
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Hassan Abolhassani, Asghar Aghamohammadi, Pilar Llobet Agulló, Hamid Ahanchian, Soheila Alyasin, Saba Arshi, Gholamreza Azizi, Mohamed-Ridha Barbouche, Mohammad Hassan Bemanian, Aziz Bousfiha, Zahra Chavoshzadeh, Taher Cheraghi, Romina Dieli Crimi, Charlotte Cunningham-Rundles, Abbas Dabbaghzadeh, Sepideh Darougar, Rainer Doffinger, Anne Durandy, Mohammad Ehlayel, Hermann Eibel, Mohammad Hossein Eslamian, Hossein Esmaeilzadeh, Teresa Espanol, Morteza Fallahpour, Saba Fekrvand, Andrew R Gennery, Javad Ghaffari, Negar Ghaffari, Sudhir Gupta, Lennart Hammarström, Marzieh Heydrzadeh, Arash Kalantari, Rasoul Nasiri Kalmarzi, Hirokazu Kanegane, Negar Khalighi, Abbas Khalili, Martin Lavin, Alireza Mahdaviani, Tooba Momen, Mohammad Nabavi, Tim Niehues, Hans D. Ochs, Peter Olbrich, Alessandro Plebani, Nima Rezaei, Farhad Seif, Mikko Seppänen, Mahnaz Sadeghi Shabestari, Alireza Shafiei, Mansoureh Shariat, Deepti Suri, Marzieh Tavakol, Mirjam van der Burg, Menno van Zelm, Ahmad Vosoughi Motlagh, and Reza Yazdani
- Published
- 2021
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3. Immune Deficiencies Caused by B Cell Defects
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Anne Durandy, Sven Kracker, and Alain Fischer
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Pathogenesis ,medicine.anatomical_structure ,Lineage (genetic) ,Immune system ,Immunoglobulin class switching ,medicine ,Bone marrow ,Biology ,Gene ,B cell ,Function (biology) ,Cell biology - Abstract
Primary antibody deficiencies (PADs) are the most common inherited immunodeficiencies in humans. The use of novel approaches, such as whole-exome sequencing and mouse genetic engineering, has helped identify new genes involved in the pathogenesis of PADs and has enabled the characterization of the molecular pathways that are involved in B cell development and function. We will summarize the different PADs in terms of their known or putative mechanisms that underlie B cell development in bone marrow, migration to secondary lymphoid organs, survival, and activation, although these different mechanisms can share the same molecular pathways. The defect leading to PAD can be B cell-specific or affecting also other(s) hematopoietic or nonhematopoietic lineage(s). Finally, most of PADs remain not molecularly defined so far.
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- 2015
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4. Contributors
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Frederick W. Alt, Radbruch Andreas, Nasim A. Begum, Michael C. Carroll, Andrea Cerutti, Richard Chahwan, Tsutomu Chiba, Max D. Cooper, Riccardo Dalla-Favera, Van Duc Dang, Sabyasachi Das, Betty Diamond, Anne Durandy, Sidonia Fagarasan, Ann J. Feeney, Marc Feldmann, Simon Fillatreau, Alain Fischer, Jennifer L. Gommerman, Carl S. Goodyear, James Hagman, Richard R. Hardy, Anja E. Hauser, Kyoko Hayakawa, Barton F. Haynes, Brantley R. Herrin, Falk Hiepe, Masaki Hikida, Ellen Hilgenberg, Masayuki Hirano, Tasuku Honjo, Uta E. Höpken, Ellen Hsu, Hassan Jumaa, John F. Kearney, Garnett Kelsoe, Tadamitsu Kishimoto, Maki Kobayashi, Sven Kracker, Tomohiro Kurosaki, Marie-Paule Lefranc, Susanna M. Lewis, Jianxu Li, Andreia C. Lino, Alicia J. Little, Joseph S. Lucas, Fabienne Mackay, Giuliana Magri, Alberto Martin, Hiroyuki Marusawa, John R. Mascola, Adam Matthews, Iain B. McInnes, Fei-Long Meng, Byoung-Gon Moon, Stefan A. Muljo, Cornelis Murre, Gary J. Nabel, Hitoshi Nagaoka, Masashi Narazaki, Falk Nimmerjahn, Lars Nitschke, Alberto Nobrega, Marjorie Oettinger, Jahan Yar Parsa, Laura Pasqualucci, Klaus Rajewsky, Jeffrey V. Ravetch, Michael Reth, Roy Riblet, Stefanie Ries, David B. Roth, Imme Sakwa, Kevin O. Saunders, Matthew D. Scharff, David G. Schatz, Harry W. Schroeder, Ping Shen, Susan A. Shinton, Akritee Shrestha, Yoichi Sutoh, Atsushi Takai, Toshitada Takemori, Toshio Tanaka, David Tarlinton, Ming Tian, Alexander Tsoukas, Andre M. Vale, Markus Werner, Duane R. Wesemann, Yan Zhou, and Yong-Rui Zou
- Published
- 2015
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5. The Hyper IgM Syndromes – a Long List of Genes and Years of Discovery
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Anne Durandy and Sven Kracker
- Subjects
Genetics ,biology ,Immunoglobulin class switching ,DNA repair ,Activation-induced (cytidine) deaminase ,biology.protein ,Somatic hypermutation ,DNA mismatch repair ,Cytidine deaminase ,Gene ,Immunoglobulin Class Switch Recombination - Abstract
Inherited defects in immunoglobulin class switch recombination constitute a group of genetically heterogeneous diseases. The characterization of these class switch recombination defects (which are sometimes associated with defects in the somatic hypermutation process) has prompted the realization that T:B-cell interactions (resulting in CD40-mediated signaling in B-cells), intrinsic B-cell mechanisms (including the induction of DNA lesions by activation-induced cytidine deaminase) and a complex DNA repair machinery are all involved in antibody maturation. These defects were first described in the mid-20th century but have not yet revealed all their secrets. The still on-going molecular definition of these conditions is essential for (1) better understanding the molecular basis of immunoglobulin diversification, (2) defining the clinical spectrum of these diseases and (3) developing more accurate diagnostic and therapeutic approaches.
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- 2014
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6. Class-Switch Recombination Defects
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Anne Durandy and Sven Kracker
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Genetics ,biology ,Genetic counseling ,Somatic hypermutation ,chemical and pharmacologic phenomena ,Cytidine deaminase ,medicine.disease ,Immunoglobulin class switching ,Immunology ,Primary immunodeficiency ,medicine ,Activation-induced (cytidine) deaminase ,biology.protein ,Antibody ,Immunodeficiency - Abstract
Immunoglobulin (Ig) class-switch recombination (CSR) defects are rare primary immunodeficiencies characterized by normal or increased serum IgM levels contrasting with the absence or decrease of other isotypes (IgG, IgA, and IgE). According to the molecular basis, CSR deficiency (CSR-D) is associated or not to a defect of the other event of antibody maturation, the somatic hypermutation process. CSR-D is a very heterogeneous syndrome, from typical features of combined immunodeficiency in the most frequent form, the X-linked CD40-ligand deficiency, to a pure humoral defect as observed in the autosomal recessive activation-induced cytidine deaminase deficiency. The ongoing genetic definition of CSR-D is essential for accurate diagnosis, including genetic counseling, prenatal diagnosis, and establishment of an appropriate follow-up and treatment. It also allows a better delineation of the complex molecular mechanisms underlying antibody maturation in humans.
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- 2014
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7. Contributors
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Bernd H. Belohradsky, Melvin Berger, Aziz A. Bousfiha, Jean-Laurent Casanova, Marina Cavazzana-Calvo, Helen M. Chapel, Antonio Condino-Neto, Max D. Cooper, Charlotte Cunningham-Rundles, Robert Currier, Geneviève de Saint Basile, Carol Ann Demaret, Anne Durandy, Karin R. Engelhardt, Amos Etzioni, Alain Fischer, Thomas A. Fleisher, Michael M. Frank, Richard A. Gatti, Raif S. Geha, Bodo Grimbacher, Salima Hacein-Bey-Abina, Michael S. Hershfield, Rochelle Hirschhorn, Steven M. Holland, Leila Jeddane, Sven Kracker, Warren J. Leonard, Deborah McCurdy, Donna M. McDonald-McGinn, Hilaire J. Meuwissen, Fred M. Modell, Vicki M. Modell, Luigi Daniele Notarangelo, Hans D. Ochs, Capucine Picard, Jennifer M. Puck, William T. Shearer, C.I. Edvard Smith, E. Richard Stiehm, Rainer Storb, Kathleen E. Sullivan, Karl Welte, and Jerry A. Winkelstein
- Published
- 2014
- Full Text
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8. List of Contributors
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Mark Ballow, Mohamed-Ridha Barbouche, Vincent R. Bonagura, Francisco A. Bonilla, Sarah K. Browne, Fabio Candotti, Magda Carneiro-Sampaio, Talal A. Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Rebeca Pérez de Diego, Adriana A. de Jesus, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Anne Durandy, Stephan Ehl, Robert Eisenberg, Brian Eley, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Michael M. Frank, Alexandra F. Freeman, Eleonora Gambineri, Benjamin Gathmann, Raif S. Geha, Andrew R. Gennery, Erik-Oliver Glocker, Raphaela Goldbach-Mansky, John M. Graham, Bodo Grimbacher, Elie Haddad, Sophie Hambleton, Suheir Hanna, Steven M. Holland, Jean-Pierre de Villartay, Sara Kashef, Christoph Klein, Donald B. Kohn, Sven Kracker, Yu-Lung Lau, Pamela Lee, Heather Lehman, Jennifer W. Leiding, Lily E. Leiva, Michael J. Lenardo, Arnold I. Levinson, Robert Y. Lin, Vassilios Lougaris, M. Louise Markert, Rebecca A. Marsh, László Maródi, David H. McDermott, Douglas R. McDonald, Stephen J. McGeady, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kim E. Nichols, Luigi D. Notarangelo, Hans Ochs, João Bosco Oliveira, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Elena E. Perez, Alessandro Plebani, Oscar Porras, Jennifer M. Puck, Isabella Quinti, Nima Rezaei, Carlos Rodríguez-Gallego, Sergio D. Rosenzweig, John M. Routes, Irini Sereti, Ricardo U. Sorensen, Carsten Speckmann, Helen C. Su, Kathleen E. Sullivan, M. Teresa de la Morena, Troy Torgerson, James Treat, Mirjam van der Burg, Silvère M. van der Maarel, James W. Verbsky, Anna Villa, Klaus Warnatz, Corry M.R. Weemaes, Hale Yarmohammadi, Joyce E. Yu, John B. Ziegler, and Heddy Zola
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- 2014
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9. Pathophysiology of B‐Cell Intrinsic Immunoglobulin Class Switch Recombination Deficiencies
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Sophie Péron, Nadine Taubenheim, Anne Durandy, and Alain Fischer
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Genetics ,Immunoglobulin class switching ,Hyper-IgM Immunodeficiency Syndrome ,Uracil-DNA glycosylase ,Somatic hypermutation ,chemical and pharmacologic phenomena ,Cytidine deaminase ,Base excision repair ,Biology ,Phenotype ,Immunoglobulin Class Switch Recombination - Abstract
B-cell intrinsic immunoglobulin class switch recombination (Ig-CSR) deficiencies, previously termed hyper-IgM syndromes, are genetically determined conditions characterized by normal or elevated serum IgM levels and an absence or very low levels of IgG, IgA, and IgE. As a function of the molecular mechanism, the defective CSR is variably associated to a defect in the generation of somatic hypermutations (SHMs) in the Ig variable region. The study of Ig-CSR deficiencies contributed to a better delineation of the mechanisms underlying CSR and SHM, the major events of antigen-triggered antibody maturation. Four Ig-CSR deficiency phenotypes have been so far reported: the description of the activation-induced cytidine deaminase (AID) deficiency (Ig-CSR deficiency 1), caused by recessive mutations of AICDA gene, characterized by a defect in CSR and SHM, clearly established the role of AID in the induction of the Ig gene rearrangements underlying CSR and SHM. A CSR-specific function of AID has, however, been detected by the observation of a selective CSR defect caused by mutations affecting the C-terminus of AID. Ig-CSR deficiency 2 is the consequence of uracil-N-glycosylase (UNG) deficiency. Because UNG, a molecule of the base excision repair machinery, removes uracils from DNA and AID deaminates cytosines into uracils, that observation indicates that the AID-UNG pathway directly targets DNA of switch regions from the Ig heavy-chain locus to induce the CSR process. Ig-CSR deficiencies 3 and 4 are characterized by a selective CSR defect resulting from blocks at distinct steps of CSR. A further understanding of the CSR machinery is expected from their molecular definition.
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- 2007
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10. Human Models of Inherited Immunoglobulin Class Switch Recombination and Somatic Hypermutation Defects (Hyper-IgM Syndromes)
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Anne Durandy, Alain Fischer, and Patrick Revy
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Genetics ,Somatic hypermutation ,Biology ,Immunoglobulin Class Switch Recombination - Published
- 2004
- Full Text
- View/download PDF
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