Stéphanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

UNVERIFIED PROFILE

Are you Stéphanie Boisson-Dupuis?   Register this Author

Register author
Stéphanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

Publications by authors named "Stéphanie Boisson-Dupuis"

Are you Stéphanie Boisson-Dupuis?   Register this Author

90Publications

-Reads

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

J Clin Immunol 2018 May 18;38(4):460-463. Epub 2018 May 18.

DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, PO Box 241, 8000, Francie van Zijl Drive, Tygerberg, Cape Town, 7505, South Africa.

View Article
May 2018

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.

Pediatrics 2017 Nov 12;140(5). Epub 2017 Oct 12.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute.

View Article
November 2017

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.

Pediatr Blood Cancer 2017 Jun 22;64(6). Epub 2016 Nov 22.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.

View Article
June 2017

A novel kindred with inherited STAT2 deficiency and severe viral illness.

J Allergy Clin Immunol 2017 Jun 10;139(6):1995-1997.e9. Epub 2017 Jan 10.

Department of Immunology and Microbiology, Autoimmune Genetics Laboratory, Vlaams Instituut Biotechnologie and KU Leuven, Leuven, Flanders, Belgium. Electronic address:

View Article
June 2017

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

J Clin Immunol 2017 Jan 14;37(1):12-17. Epub 2016 Nov 14.

Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium.

View Article
January 2017

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

Curr Protoc Immunol 2016 Nov 1;115:7.21C.1-7.21C.12. Epub 2016 Nov 1.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York.

View Article
November 2016

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

J Allergy Clin Immunol 2016 07 28;138(1):241-248.e3. Epub 2016 Feb 28.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. Electronic address:

View Article
July 2016

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.

J Infect Dis 2016 Apr 21;213(7):1173-9. Epub 2015 Dec 21.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Paris Descartes University, Sorbonne Paris Cité, Imagine Institute St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University.

View Article
April 2016

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

J Clin Immunol 2016 Apr;36(3):335

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.

View Article
April 2016

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.

J Clin Immunol 2016 Jan 21;36(1):12-5. Epub 2015 Dec 21.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, New York, NY, 10065, USA.

View Article
January 2016

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

View Article
November 2015

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.

J Infect Dis 2015 Jan 20;211(2):317-21. Epub 2014 Aug 20.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163 University Paris Descartes, Sorbonne Paris Cité, Imagine Institute St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch.

View Article
January 2015

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Semin Immunol 2014 Dec 26;26(6):454-70. Epub 2014 Oct 26.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM-U1163, Paris, France, EU; Paris Descartes University, Imagine Institute, Paris, France, EU; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Howard Hughes Medical Institute, NY, USA; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France, EU.

View Article
December 2014

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency.

J immunodefic Disord 2014 Jun;3

Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Enfants Malades Hospital, Paris, 75015, France, EU.

View Article
June 2014

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

BMC Genomics 2014 Apr 3;15:256. Epub 2014 Apr 3.

St, Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

View Article
April 2014

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PLoS One 2013 5;8(3):e58286. Epub 2013 Mar 5.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.

View Article
December 2013

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.

Indian J Pediatr 2013 Jun 29;80(6):505-8. Epub 2012 Feb 29.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India.

View Article
June 2013

ISG15: leading a double life as a secreted molecule.

Exp Mol Med 2013 Apr 12;45:e18. Epub 2013 Apr 12.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

View Article
April 2013

Mendelian susceptibility to mycobacterial disease in egyptian children.

Mediterr J Hematol Infect Dis 2012 7;4(1):e2012033. Epub 2012 May 7.

Primary Immunodeficiency Clinic, Department of Pediatrics, Cairo University, Egypt.

View Article
October 2012

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.

Curr Opin Immunol 2012 Aug 30;24(4):364-78. Epub 2012 May 30.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

View Article
August 2012

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

J Pediatr 2012 Jun 7;160(6):1055-7. Epub 2012 Mar 7.

Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey.

View Article
June 2012

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Ann N Y Acad Sci 2011 Dec;1246:92-101

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France.

View Article
December 2011

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.

J Clin Immunol 2011 Aug 13;31(4):537-9. Epub 2011 Apr 13.

Mycobacteriology Research Center, Division of Infectious Disease and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Darabad, Niavaran, Tehran, Iran.

View Article
August 2011

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France.

View Article
August 2011

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

Pediatr Infect Dis J 2011 Apr;30(4):352-5

Department of Pediatrics, Hadassah-Hebrew University Medical Center, Ein-Kerem, Jerusalem, Israel.

View Article
April 2011

Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency.

Clin Dev Immunol 2011 22;2011:691956. Epub 2010 Dec 22.

Department of Pediatrics, College of Medicine, King Saud University, P.O. Box 2925, Riyadh 11461, Saudi Arabia.

View Article
April 2011

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Authors:
Ludovic de Beaucoudrey Arina Samarina Jacinta Bustamante Aurélie Cobat Stéphanie Boisson-Dupuis Jacqueline Feinberg Saleh Al-Muhsen Lucile Jannière Yoann Rose Maylis de Suremain Xiao-Fei Kong Orchidée Filipe-Santos Ariane Chapgier Capucine Picard Alain Fischer Figen Dogu Aydan Ikinciogullari Gonul Tanir Sami Al-Hajjar Suliman Al-Jumaah Husn H Frayha Zobaida AlSum Sulaiman Al-Ajaji Abdullah Alangari Abdulaziz Al-Ghonaium Parisa Adimi Davood Mansouri Imen Ben-Mustapha Judith Yancoski Ben-Zion Garty Carlos Rodriguez-Gallego Isabel Caragol Necil Kutukculer Dinakantha S Kumararatne Smita Patel Rainer Doffinger Andrew Exley Olle Jeppsson Janine Reichenbach David Nadal Yaryna Boyko Barbara Pietrucha Suzanne Anderson Michael Levin Liliane Schandené Kinda Schepers André Efira Françoise Mascart Masao Matsuoka Tatsunori Sakai Claire-Anne Siegrist Klara Frecerova Renate Blüetters-Sawatzki Jutta Bernhöft Joachim Freihorst Ulrich Baumann Darko Richter Filomeen Haerynck Frans De Baets Vas Novelli David Lammas Christiane Vermylen David Tuerlinckx Chris Nieuwhof Malgorzata Pac Walther H Haas Ingrid Müller-Fleckenstein Bernhard Fleckenstein Jacob Levy Revathi Raj Aileen Cleary Cohen David B Lewis Steven M Holland Kuender D Yang Xiaochuan Wang Xiaohong Wang Liping Jiang Xiqiang Yang Chaomin Zhu Yuanyuan Xie Pamela Pui Wah Lee Koon Wing Chan Tong-Xin Chen Gabriela Castro Ivelisse Natera Ana Codoceo Alejandra King Liliana Bezrodnik Daniela Di Giovani Maria Isabel Gaillard Dewton de Moraes-Vasconcelos Anete Sevciovic Grumach Alberto Jose da Silva Duarte Ruth Aldana Francisco Javier Espinosa-Rosales Mohammed Bejaoui Ahmed Aziz Bousfiha Jamila El Baghdadi Namik Ozbek Guzide Aksu Melike Keser Ayper Somer Nevin Hatipoglu Cigdem Aydogmus Suna Asilsoy Yildiz Camcioglu Saniye Gülle Tuba T Ozgur Meteran Ozen Matias Oleastro Andrea Bernasconi Setareh Mamishi Nima Parvaneh Sergio Rosenzweig Ridha Barbouche Sigifredo Pedraza Yu Lung Lau Mohammad S Ehlayel Claire Fieschi Laurent Abel Ozden Sanal Jean-Laurent Casanova

Medicine (Baltimore) 2010 Nov;89(6):381-402

Laboratory of Human Genetics of Infectious Diseases U980, Institut National de la Santé et de la Recherche Médicale, Paris, France.

View Article
November 2010

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pediatrics 2010 Oct 20;126(4):e971-6. Epub 2010 Sep 20.

Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico.

View Article
October 2010

Primary immunodeficiencies of protective immunity to primary infections.

Clin Immunol 2010 May 16;135(2):204-9. Epub 2010 Mar 16.

Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, Morocco.

View Article
May 2010

Septins regulate bacterial entry into host cells.

PLoS One 2009 15;4(1):e4196. Epub 2009 Jan 15.

Institut Pasteur, Unité des Interactions Bactéries-Cellules, Paris, France.

View Article
March 2009

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases.

Curr Opin Immunol 2008 Feb;20(1):39-48

Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, INSERM-U550, Paris 75015, France, EU.

View Article
February 2008

Human primary immunodeficiencies of type I interferons.

Biochimie 2007 Jun-Jul;89(6-7):878-83. Epub 2007 May 8.

Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, U550, 75015 Paris, France.

View Article
September 2007

Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling.

J Virol 2007 Jul 9;81(14):7776-85. Epub 2007 May 9.

Abteilung Virologie, Institut für Medizinische Mikrobiologie und Hygiene, Hermann-Herder-Strasse 11, D-79104 Freiburg, Germany.

View Article
July 2007

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Semin Immunol 2006 Dec 25;18(6):347-61. Epub 2006 Sep 25.

Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-INSERM U 550, Necker Medical School, 75015 Paris, France, EU.

View Article
December 2006

ARHGAP10 is necessary for alpha-catenin recruitment at adherens junctions and for Listeria invasion.

Nat Cell Biol 2005 Oct 25;7(10):954-60. Epub 2005 Sep 25.

Unité des Interactions Bactéries-Cellules Institut Pasteur, INSERM U604, INRA USC2020, 28 Rue du Dr Roux, 75724 Paris Cedex 15, France.

View Article
October 2005

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.

Blood 2004 Oct 3;104(7):2095-101. Epub 2004 Jun 3.

Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes (Institut National de la Santé et de la Recherche Médicale U550), Paris, France, EU.

View Article
October 2004