Search Results for: Jean-Laurent Casanova
Casanova, whose research established for the first time that a predisposition to infectious diseases in children can be genetically determined, has been named one of 27 new investigators with the Howard Hughes Medical Institute. His appointment brings the total number of Rockefeller scientists supported by HHMI to 16. More »
The award is bestowed upon a leading biomedical research scientist who has made outstanding contributions to interferon and cytokine research, either in a basic or applied field. Casanova’s studies have important clinical implications, as they provide a rationale for developing new therapeutic approaches based on an understanding of the host component of infectious diseases. More »
Jean-Laurent Casanova has received the 2011 InBev-Baillet Latour Health Prize, Belgium’s most important scientific prize, for his pioneering work on the identification of genes that predispose for human infectious disease. More »
With the Human Gene Connectome, an investigator can rank potential disease-causing genes based on a new metric called biological distance. This tool is now available online thanks in part to the work of two high school students. More »
Journal of Experimental Medicine 210: 2739-2753 Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells Elissa K. Deenick, Danielle T. Avery, Anna Chan, Lucinda J. Berglund, Megan L. Ives, Leen Moens, … More »
Immunity 39: 676-686 An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis Bertrand Boissonsend, Chenhui Wang, Vincent Pedergnana, Ling Wu, Sophie Cypowyj, Michel Rybojad, Aziz Belkadi, Capucine Picard, Laurent Abel, Claire Fieschi, Anne Puel, Xiaoxia Li … More »
New England Journal of Medicine 369: 1704-1714 Deep dermatophytosis and inherited CARD9 deficiency Fanny Lanternier, Saad Pathan, Quentin B. Vincent, Luyan Liu, Sophie Cypowyj, Carolina Prando, Mélanie Migaud, Lynda Taibi, Aomar Ammar-Khodja, Omar Boudghene Stambouli, Boumediene Guellil, Frederique Jacobs, Jean-Christophe … More »
Jean-Laurent Casanova, head of the Laboratory of Human Genetics of Infectious Diseases, and colleagues at Necker Medical School in Paris have discovered a genetic deficiency that in rare cases allows the dermatophyte fungus, which causes ringworm, to spread below the skin’s surface and onto the lymph nodes, bones, digestive tract and even the brain. More »
Journal of Experimental Medicine online: July 29, 2013 Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood Minji Byun, Cindy S. Ma, Arzu Akçay, Vincent Pedergnana, Umaimainthan Palendira, Jinjong Myoung, Danielle T. Avery, Yifang Liu, Avinash Abhyankar, Lazaro Lorenzo, … More »
An international team of scientists led by Rockefeller University researchers has identified the defective gene responsible for a rare disorder in which children are born without a spleen, which makes them susceptible to life-threatening bacterial infections early in life. The findings may lead to new diagnostic tests and raises new questions about the role of this gene in the body’s protein-making machinery.
Science online: April 11, 2013 Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, … More »
Researchers at Rockefeller University, along with colleagues at Necker Hospital for Sick Children and the Pasteur Institute in Paris and Ben-Gurion University in Israel, have generated the full set of distances, routes and degrees of separation between any two human genes, creating a map of gene “shortcuts” that aims to simplify the hunt for disease-causing genes in monogenic diseases. More »
Proceedings of the National Academy of Sciences USA online: March 18, 2013 The human gene connectome as a map of short cuts for morbid allele discovery Yuval Itana, Shen-Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschke, Dror Fried, … More »
Rice, head of the Laboratory of Virology and Infectious Disease at Rockefeller, has been awarded the 100,000 euro prize for his description of the molecular and cellular basis of hepatitis C infection in humans.
Nature Immunology online: October 28, 2012 Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani, Elisabeth Israelsson, Zhaohui Xu, Avinash Abhyankar, Laura Israël, Giraldina Trevejo-Nunez, Dusan Bogunovic, Alma-Martina Cepika, … More »
Nature online: October 28, 2012 Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells Fabien G. Lafaille, Itai M. Pessach, Shen-Ying Zhang, Michael J. Ciancanelli, Melina Herman, Avinash Abhyankar, Shui-Wang Ying, Sotirios Keros, Peter A. Goldstein, Gustavo Mostoslavsky, … More »
Nature Genetics 44: 1255-1259 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Giulia Barcia, Matthew R Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick … More »
The Journal of Experimental Medicine 209: 1813-1823 Macrophages induce differentiation of plasma cells through CXCL10/IP-10 Wei Xu, HyeMee Joo, Sandra Clayton, Melissa Dullaers, Marie-Cecile Herve, Derek Blankenship, Maria Teresa De La Morena, Robert Balderas, Capucine Picard, Jean-Laurent Casanova, Virginia Pascual, … More »
Research led by Rockefeller University scientists found that a protein once thought to be mainly involved in antiviral immunity is instead vital to fighting a type of bacteria that cause diseases such as tuberculosis and leprosy.