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Stéphanie Dupuis

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C Berger; B Trombert-Paviot; N Mitton; Didier Frappaz; Claire Galambrun; Dominique Plantaz; Stéphanie Dupuis; Yves Bertrand; Noël Philippe; M Schell; P Marec-Bérard; Christophe Bergeron; Corinne Armari-Alla; Anne Pagnier; Jean Louis Stephan; F Freycon
[Childhood cancer incidence and survival rates in the Rhône-Alpes regional paediatric registry 1987-1999].
Silvia Giliani; Luigi Mori; Geneviève de Saint Basile; Françoise Le Deist; Carmen Rodriguez-Perez; Concetta Forino; Evelina Mazzolari; Stéphanie Dupuis; Ronit Elhasid; Aharon Kessel; Claire Galambrun; Juana Gil; Alain Fischer; Amos Etzioni; Luigi D Notarangelo
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Yildiz Camcioglu; Capucine Picard; Vincent Lacoste; Stéphanie Dupuis; Necla Akçakaya; Haluk Cokura; Gültekin Kaner; Cuyan Demirkesen; Sabine Plancoulaine; Jean-François Emile; Antoine Gessain; Jean-Laurent Casanova
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.

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All Publications

2006: C Berger; B Trombert-Paviot; N Mitton; Didier Frappaz; Claire Galambrun; Dominique Plantaz; Stéphanie Dupuis; Yves Bertrand; Noël Philippe; M Schell; P Marec-Bérard; Christophe Bergeron; Corinne Armari-Alla; Anne Pagnier; Jean Louis Stephan; F Freycon
[Childhood cancer incidence and survival rates in the Rhône-Alpes regional paediatric registry 1987-1999].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(2):121-9.
2005: Silvia Giliani; Luigi Mori; Geneviève de Saint Basile; Françoise Le Deist; Carmen Rodriguez-Perez; Concetta Forino; Evelina Mazzolari; Stéphanie Dupuis; Ronit Elhasid; Aharon Kessel; Claire Galambrun; Juana Gil; Alain Fischer; Amos Etzioni; Luigi D Notarangelo
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Immunological reviews 2005;203():110-26.
2004: Yildiz Camcioglu; Capucine Picard; Vincent Lacoste; Stéphanie Dupuis; Necla Akçakaya; Haluk Cokura; Gültekin Kaner; Cuyan Demirkesen; Sabine Plancoulaine; Jean-François Emile; Antoine Gessain; Jean-Laurent Casanova
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.
The Journal of pediatrics 2004;144(4):519-23.
2004: Rainer Döffinger; Matthew R Helbert; Gabriela Barcenas-Morales; Kun Yang; Stéphanie Dupuis; Lourdes Ceron-Gutierrez; Clara Espitia-Pinzon; Neil Barnes; Graham Bothamley; Jean-Laurent Casanova; Hilary J Longhurst; Dinakantha S Kumararatne
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2004;38(1):e10-4.
2003: Capucine Picard; Anne Puel; Marion Bonnet; Cheng-Lung KU; Jacinta Bustamante; Kun Yang; Claire Soudais; Stéphanie Dupuis; Jacqueline Feinberg; Claire Fieschi; Carole Elbim; Remi Hitchcock; David A Lammas; Graham Davies; Abdulaziz Al-Ghonaium; Hassan Al-Rayes; Sulaiman Al-Jumaah; Sami Al-Hajjar; Ibrahim Zaid Al-Mohsen; Husn H Frayha; Rajivi P Rucker; Thomas R Hawn; Alan Aderem; Haysam Tufenkeji; Soichi Haraguchi; Noorbibi K Day; Robert A Good; Marie-Anne Gougerot-Pocidalo; Adrian Ozinsky; Jean-Laurent Casanova
Pyogenic bacterial infections in humans with IRAK-4 deficiency.
Science (New York, N.Y.) 2003;299(5615):2076-9.
2003: Stéphanie Dupuis; Emmanuelle Jouanguy; Sami Al-Hajjar; Claire Fieschi; Ibrahim Zaid Al-Mohsen; Sulaiman Al-Jumaah; Kun Yang; Ariane Chapgier; Céline Eidenschenk; Pierre Eid; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Husn H Frayha; Suleiman Al-Gazlan; Hassan Al-Rayes; Robert D Schreiber; Ion Gresser; Jean-Laurent Casanova
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
Nature genetics 2003;33(3):388-91.
2002: Rainer Döffinger; Stéphanie Dupuis; Capucine Picard; Claire Fieschi; Jacqueline Feinberg; Gabriela Barcenas-Morales; Jean-Laurent Casanova
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Molecular immunology 2002;38(12-13):903-9.
2002: Capucine Picard; Claire Fieschi; Frédéric Altare; Sulaiman Al-Jumaah; Sami Al-Hajjar; Jacqueline Feinberg; Stéphanie Dupuis; Claire Soudais; Ibrahim Zaid Al-Mohsen; Emmanuelle Génin; David A Lammas; Dinakantha S Kumararatne; Tony Leclerc; Arash Rafii; Husn H Frayha; Belinda Murugasu; Lee Bee Wah; Raja Sinniah; Michael Loubser; Emi Okamoto; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Laurent Abel; Jean-Laurent Casanova
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
American journal of human genetics 2002;70(2):336-48.
2001: Janine Reichenbach; S Rosenzweig; Rainer Döffinger; Stéphanie Dupuis; Steven M Holland; Jean-Laurent Casanova
Mycobacterial diseases in primary immunodeficiencies.
Current opinion in allergy and clinical immunology 2001;1(6):503-11.
2001: Stéphanie Dupuis; C Dargemont; Claire Fieschi; N Thomassin; S Rosenzweig; J Harris; Steven M Holland; Robert D Schreiber; Jean-Laurent Casanova
Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.
Science (New York, N.Y.) 2001;293(5528):300-3.
2001: Claire Fieschi; Stéphanie Dupuis; Capucine Picard; C I Smith; Steven M Holland; Jean-Laurent Casanova
High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency.
Pediatrics 2001;107(4):E48.
2001: A Villella; Capucine Picard; Emmanuelle Jouanguy; Stéphanie Dupuis; S Popko; Nazha Abughali; Howard J Meyerson; Jean-Laurent Casanova; Robert Hostoffer
Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
Pediatrics 2001;107(4):E47.
2001: Marina Cavazzana-Calvo; Isabelle André-Schmutz; Salima Hacein-Bey; John Schindler; H Vitetta; Stéphanie Dupuis; Pierre Quartier; Gaëlle Chedeville; Etienne Vilmer; Jean-Laurent Casanova; R Buffet; Sophie Caillat-Zucman; Isabelle Radford; Françoise Le Deist; Alain Fischer
[T-cell-depleted HLA non-identical bone marrow transplantation in the child: prevention of graft-versus-host reaction by administration of donor T lymphocytes alloreactive against the recipient].
Journal de la Société de biologie 2001;195(1):65-8.
2000: Stéphanie Dupuis; Rainer Döffinger; Capucine Picard; Claire Fieschi; Frédéric Altare; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova
Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion.
Immunological reviews 2000;178():129-37.
2000: Gaël Ménasché; E Pastural; Jérôme Feldmann; Stéphanie Certain; Fügen Ersoy; Stéphanie Dupuis; Nico M Wulffraat; D Bianchi; Alain Fischer; Françoise Le Deist; Geneviève de Saint Basile
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Nature genetics 2000;25(2):173-6.
2000: Emmanuelle Jouanguy; Stéphanie Dupuis; Annaïck Pallier; Rainer Döffinger; Marie-Claude Fondanèche; Claire Fieschi; S Lamhamedi-Cherradi; Frédéric Altare; Jean-François Emile; P Lutz; P Bordigoni; Haluk Cokugras; Necla Akcakaya; J Landman-Parker; J Donnadieu; Yildiz Camcioglu; Jean-Laurent Casanova
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
The Journal of clinical investigation 2000;105(10):1429-36.
2000: Rainer Döffinger; Emmanuelle Jouanguy; Stéphanie Dupuis; Marie-Claude Fondanèche; Jean Louis Stephan; Jean-François Emile; S Lamhamedi-Cherradi; Frédéric Altare; Annaïck Pallier; Gabriela Barcenas-Morales; E Meinl; C Krause; S Pestka; Robert D Schreiber; Francesco Novelli; Jean-Laurent Casanova
Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
The Journal of infectious diseases 2000;181(1):379-84.
1999: Emmanuelle Jouanguy; Rainer Döffinger; Stéphanie Dupuis; Annaïck Pallier; Frédéric Altare; Jean-Laurent Casanova
IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.
Current opinion in immunology 1999;11(3):346-51.
1999: Emmanuelle Jouanguy; S Lamhamedi-Cherradi; David A Lammas; Susan E Dorman; Marie-Claude Fondanèche; Stéphanie Dupuis; Rainer Döffinger; Frédéric Altare; John Girdlestone; Jean-François Emile; H Ducoulombier; D Edgar; J Clarke; V A Oxelius; M Brai; V Novelli; Klaus Heyne; Alain Fischer; Steven M Holland; Dinakantha S Kumararatne; Robert D Schreiber; Jean-Laurent Casanova
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Nature genetics 1999;21(4):370-8.