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Immunity 39: 676-686 (10-17-13)
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 ...
Gene is linked to deadly runaway fungal infection
...Jean-Laurent Casanova, head of the Laboratory of Human Genetics of Infectious Diseases, and colleagues examined the genomes of 17 people who had deep dermatophytosis but were otherwise healthy — their immune systems were working well and should have been able to fight off infecti...
A new web tool effectively prioritizes disease-causing genes by biological distance
...Giles Laboratory of Human Genetics of Infectious Disease led by Jean-Laurent Casanova. “It wasn’t enough for the system to work, we needed to make it widely accessible, and we have accomplished that, in part, thanks to the efforts of two high school students,” Itan says. The stud...
Genetic mutation helps explain why, in rare cases, flu can kill
...Years after her ordeal, which she survived, scientists led by Jean-Laurent Casanova discovered that it could be explained by a rare mutation she carries that prevented her from producing a protein, interferon, that helps fight off the virus. “This is the first example of a common...
Scientists discover gene mutation that causes children to be born without spleen
...Giles lab, headed by Jean-Laurent Casanova, set out to identify the gene responsible for isolated congenital asplenia. He and his colleagues conducted an international search for patients, and identified 38 affected individuals from 23 families in North and South America, Europe ...
Journal of Experimental Medicine online: July 29, 2013
Tangye and Jean-Laurent Casanova
Science online: April 11, 2013
Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri and Jean-Laurent Casanova
Journal of Experimental Medicine online: July 29, 2013
Tangye and Jean-Laurent Casanova
Proceedings of the National Academy of Sciences USA online: March 18, 2013
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, Lluis Quintana-Murci, Laurent Abel ...
The Journal of Experimental Medicine online: August 7, 2012
White, Laurent Abel, Shen-Ying Zhang and Jean-Laurent Casanova
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