Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Orchidée Filipe-Santos"'
Autor:
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg, Ada Prochnicka-Chalufour, Armanda Casrouge, Kun Yang, Claire Soudais, Claire Fieschi, Orchidée Filipe Santos, Jacinta Bustamante, Capucine Picard, Ludovic de Beaucoudrey, Jean-François Emile, Peter D Arkwright, Robert D Schreiber, Claudia Rolinck-Werninghaus, Angela Rösen-Wolff, Klaus Magdorf, Joachim Roesler, Jean-Laurent Casanova
Publikováno v:
PLoS Genetics, Vol 2, Iss 8, p e131 (2006)
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1 germline alleles from otherwise healthy patients with
Externí odkaz:
https://doaj.org/article/58ebed901459444195e57dda4379cf28
Autor:
Nadia Plantier, Nicolas Pasqual, Orchidée Filipe-Santos, Christophe Malcus, Françoise Poitevin-Later, Alain Lepape, Guillaume Monneret, Audrey Grives, Fabienne Venet
Publikováno v:
Critical Care Medicine
Critical Care Medicine, 2013, 41 (1), pp.111-119. ⟨10.1097/CCM.0b013e3182657948⟩
Critical Care Medicine, 2013, 41 (1), pp.111-119. ⟨10.1097/CCM.0b013e3182657948⟩
International audience; Objective: Septic syndromes are the leading causes of mortality in intensive care units. In patients, the occurrence of sepsis-induced immune suppression is associated with delayed mortality, although the exact role of lymphoc
Autor:
Tao Wang, Cecile Berteau, Corinne Granger, Humberto E Rojas, Orchidée Filipe-Santos, Florence Schwarzenbach
Publikováno v:
Medical Devices (Auckland, N.Z.)
Cecile Berteau,1 Orchidée Filipe-Santos,1 Tao Wang,2 Humberto E Rojas,2 Corinne Granger,1 Florence Schwarzenbach1 1Becton-Dickinson Medical Pharmaceutical Systems, Le Pont de Claix, France; 2Eli Lilly and Company, Indianapolis, IN, USA Aim: The prim
Autor:
Guillaume Vogt, Capucine Picard, Claire Fieschi, Ludovic de Beaucoudrey, Stéphanie Boisson-Dupuis, Ariane Chapgier, Jacqueline Feinberg, Emmanuelle Jouanguy, Orchidée Filipe-Santos, Jean-Laurent Casanova, Jacinta Bustamante
Publikováno v:
Seminars in Immunology. 18:347-361
Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal ge
Autor:
Capucine Picard, Guillaume Vogt, Ariane Chapgier, J.-L. Casanova, Orchidée Filipe-Santos, H. von Bernuth
Publikováno v:
Archives de Pédiatrie. 13:1342-1346
The classic primary immunodeficiencies confer predisposition to multiple infectious diseases. However since ten years severe pediatric infections which were idiopathic have now molecular explanation. Indeed, defects in several genes confer a predispo
Autor:
Capucine Picard, László Maródi, Jean-Laurent Casanova, Orchidée Filipe-Santos, Tatiana Lawrence, Huey Hsuan Chang, Axel Jeurissen, Anne Puel, Marc Raes, Horst von Bernuth, Xavier Bossuyt, Cheng-Lung Ku, Melinda Erdos, Jacinta Bustamante
Publikováno v:
Journal of Medical Genetics. 44:16-23
Background: About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained. Objective: To report two cases of otherwise healthy, unrelated children with recurrent IPD as the only clinical infectious m
Autor:
Jean-Laurent Casanova, Polyxeni Taprantzi, Orchidée Filipe Santos, Nikolaos Spyridis, Fotini Papageorgiou, Marina Servitzoglou, Panayotis Spyridis, Ariane Chapgier, Maria N. Tsolia, Ioannis Tassios
Publikováno v:
European Journal of Pediatrics. 165:458-461
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by
Autor:
Capucine Picard, Huey-Hsuan Chang, Hamoud Al-Mousa, Tatiana Lawrence, Orchidée Filipe Santos, Jean-Laurent Casanova, Anne Puel, Cheng-Lung Ku, Kun Yang, Horst von Bernuth, Jacinta Bustamante
Publikováno v:
Journal of Endotoxin Research. 11:220-224
Recently, three human primary immunodeficiencies associated with impaired TLR signalling were described. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), either X-linked recessive or autosomal dominant, is caused by hypomorphic mutatio
Autor:
Davood Mansouri, Claire Fieschi, Carolin Engelhorn, Sami Al-Hajjar, Jean-Laurent Casanova, Guillaume Vogt, Soheila Khalilzadeh, Stéphanie Boisson-Dupuis, Sergio D. Rosenzweig, David Neil Cooper, Claire Soudais, Orchidée Filipe-Santos, Mehdi Mirsaeidi, Nadia Chuzhanova, Steven M. Holland, Oscar De La Galle Martin, Dieter Furthner, Laurent Abel, Parisa Adimi, Abdulaziz Al-Ghonaium, Jennifer M. Puck, Hans D. Ochs, Thomas R. Bauer, Ludovic de Beaucoudrey, Robert D. Schreiber, Kun Yang, Jacinta Bustamante, Ibrahim Al-Mohsen, Ariane Chapgier, Bernd H. Belohradsky, Alexandre Alcaïs, Jacqueline Feinberg
Publikováno v:
Nature Genetics. 37:692-700
Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who
Autor:
Cheng-Lung Ku, Christine Bodemer, Ilka Schulze, Yves Bertrand, Jacinta Bustamante, Gérard Couly, Capucine Picard, Orchidée Filipe Santos, Xavier Bossuyt, Sophie Dupuis-Girod, Anna-Maria Dittrich, Jean-Laurent Casanova
Publikováno v:
Pediatrics. 115:e615-e619
X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-κB essential modulator (NEMO), which is essential for nuclear factor-κB activation. Early in