Publications by authors named "Fabienne Jabot-Hanin"

13Publications

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Authors:
Mathilda Bedin Olivia Boyer Aude Servais Yong Li Laure Villoing-Gaudé Marie-Josephe Tête Alexandra Cambier Julien Hogan Veronique Baudouin Saoussen Krid Albert Bensman Florie Lammens Ferielle Louillet Bruno Ranchin Cecile Vigneau Iseline Bouteau Corinne Isnard-Bagnis Christoph J Mache Tobias Schäfer Lars Pape Markus Gödel Tobias B Huber Marcus Benz Günter Klaus Matthias Hansen Kay Latta Olivier Gribouval Vincent Morinière Carole Tournant Maik Grohmann Elisa Kuhn Timo Wagner Christine Bole-Feysot Fabienne Jabot-Hanin Patrick Nitschké Tarunveer S Ahluwalia Anna Köttgen Christian Brix Folsted Andersen Carsten Bergmann Corinne Antignac Matias Simons

J Clin Invest 2020 01;130(1):335-344

Laboratory of Epithelial Biology and Disease and.

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January 2020

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Authors:
Stéphanie Boisson-Dupuis Noe Ramirez-Alejo Zhi Li Etienne Patin Geetha Rao Gaspard Kerner Che Kang Lim Dimitry N Krementsov Nicholas Hernandez Cindy S Ma Qian Zhang Janet Markle Ruben Martinez-Barricarte Kathryn Payne Robert Fisch Caroline Deswarte Joshua Halpern Matthieu Bouaziz Jeanette Mulwa Durga Sivanesan Tomi Lazarov Rodrigo Naves Patricia Garcia Yuval Itan Bertrand Boisson Alix Checchi Fabienne Jabot-Hanin Aurélie Cobat Andrea Guennoun Carolyn C Jackson Sevgi Pekcan Zafer Caliskaner Jaime Inostroza Beatriz Tavares Costa-Carvalho Jose Antonio Tavares de Albuquerque Humberto Garcia-Ortiz Lorena Orozco Tayfun Ozcelik Ahmed Abid Ismail Abderahmani Rhorfi Hicham Souhi Hicham Naji Amrani Adil Zegmout Frédéric Geissmann Stephen W Michnick Ingrid Muller-Fleckenstein Bernhard Fleckenstein Anne Puel Michael J Ciancanelli Nico Marr Hassan Abolhassani María Elvira Balcells Antonio Condino-Neto Alexis Strickler Katia Abarca Cory Teuscher Hans D Ochs Ismail Reisli Esra H Sayar Jamila El-Baghdadi Jacinta Bustamante Lennart Hammarström Stuart G Tangye Sandra Pellegrini Lluis Quintana-Murci Laurent Abel Jean-Laurent Casanova

Sci Immunol 2018 12;3(30)

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

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December 2018

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Authors:
Rubén Martínez-Barricarte Janet G Markle Cindy S Ma Elissa K Deenick Noé Ramírez-Alejo Federico Mele Daniela Latorre Seyed Alireza Mahdaviani Caner Aytekin Davood Mansouri Vanessa L Bryant Fabienne Jabot-Hanin Caroline Deswarte Alejandro Nieto-Patlán Laura Surace Gaspard Kerner Yuval Itan Sandra Jovic Danielle T Avery Natalie Wong Geetha Rao Etienne Patin Satoshi Okada Benedetta Bigio Bertrand Boisson Franck Rapaport Yoann Seeleuthner Monika Schmidt Aydan Ikinciogullari Figen Dogu Gonul Tanir Payam Tabarsi Mohammed Reza Bloursaz Julia K Joseph Avneet Heer Xiao-Fei Kong Mélanie Migaud Tomi Lazarov Frédéric Geissmann Bernhard Fleckenstein Cecilia Lindestam Arlehamn Alessandro Sette Anne Puel Jean-François Emile Esther van de Vosse Lluis Quintana-Murci James P Di Santo Laurent Abel Stéphanie Boisson-Dupuis Jacinta Bustamante Stuart G Tangye Federica Sallusto Jean-Laurent Casanova

Sci Immunol 2018 12;3(30)

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

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December 2018

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Authors:
Athanasia Stoupa Frédéric Adam Dulanjalee Kariyawasam Catherine Strassel Sanjay Gawade Gabor Szinnai Alexandre Kauskot Dominique Lasne Carsten Janke Kathiresan Natarajan Alain Schmitt Christine Bole-Feysot Patrick Nitschke Juliane Léger Fabienne Jabot-Hanin Frédéric Tores Anita Michel Arnold Munnich Claude Besmond Raphaël Scharfmann François Lanza Delphine Borgel Michel Polak Aurore Carré

EMBO Mol Med 2018 12;10(12)

INSERM U1016, Faculté de Médecine, Cochin Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

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December 2018

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Authors:
Xiao-Fei Kong Ruben Martinez-Barricarte James Kennedy Federico Mele Tomi Lazarov Elissa K Deenick Cindy S Ma Gaëlle Breton Kimberly B Lucero David Langlais Aziz Bousfiha Caner Aytekin Janet Markle Céline Trouillet Fabienne Jabot-Hanin Cecilia S Lindestam Arlehamn Geetha Rao Capucine Picard Théo Lasseau Daniela Latorre Sophie Hambleton Caroline Deswarte Yuval Itan Katia Abarca Dewton Moraes-Vasconcelos Fatima Ailal Aydan Ikinciogullari Figen Dogu Ibtihal Benhsaien Alessandro Sette Laurent Abel Stéphanie Boisson-Dupuis Bernd Schröder Michel C Nussenzweig Kang Liu Frédéric Geissmann Stuart G Tangye Philippe Gros Federica Sallusto Jacinta Bustamante Jean-Laurent Casanova

Nat Immunol 2018 09 20;19(9):973-985. Epub 2018 Aug 20.

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

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September 2018

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

Authors:
Sarah Jill de Jong Amandine Créquer Irina Matos David Hum Vignesh Gunasekharan Lazaro Lorenzo Fabienne Jabot-Hanin Elias Imahorn Andres A Arias Hassan Vahidnezhad Leila Youssefian Janet G Markle Etienne Patin Aurelia D'Amico Claire Q F Wang Florian Full Armin Ensser Tina M Leisner Leslie V Parise Matthieu Bouaziz Nataly Portilla Maya Xavier Rueda Cadena Bayaki Saka Amir Hossein Saeidian Nessa Aghazadeh Sirous Zeinali Peter Itin James G Krueger Lou Laimins Laurent Abel Elaine Fuchs Jouni Uitto Jose Luis Franco Bettina Burger Gérard Orth Emmanuelle Jouanguy Jean-Laurent Casanova

J Exp Med 2018 09 1;215(9):2289-2310. Epub 2018 Aug 1.

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

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September 2018

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Authors:
Jérémie Rosain Carmen Oleaga-Quintas Caroline Deswarte Hannah Verdin Stéphane Marot Garyfallia Syridou Mahboubeh Mansouri S Alireza Mahdaviani Edna Venegas-Montoya Maria Tsolia Mehrnaz Mesdaghi Liudmyla Chernyshova Yuriy Stepanovskiy Nima Parvaneh Davood Mansouri Sigifredo Pedraza-Sánchez Anastasia Bondarenko Sara E Espinosa-Padilla Marco A Yamazaki-Nakashimada Alejandro Nieto-Patlán Gaspard Kerner Nathalie Lambert Corinne Jacques Emilie Corvilain Mélanie Migaud Virginie Grandin María T Herrera Fabienne Jabot-Hanin Stéphanie Boisson-Dupuis Capucine Picard Patrick Nitschke Anne Puel Frederic Tores Laurent Abel Lizbeth Blancas-Galicia Elfride De Baere Christine Bole-Feysot Jean-Laurent Casanova Jacinta Bustamante

J Clin Immunol 2018 07 11;38(5):617-627. Epub 2018 Jul 11.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.

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July 2018

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation.

Authors:
Fabienne Jabot-Hanin Aurélie Cobat Jacqueline Feinberg Marianna Orlova Jonathan Niay Caroline Deswarte Christine Poirier Ioannis Theodorou Jacinta Bustamante Stéphanie Boisson-Dupuis Jean-Laurent Casanova Alexandre Alcaïs Eileen G Hoal Christophe Delacourt Erwin Schurr Laurent Abel

Sci Rep 2017 10 9;7(1):12800. Epub 2017 Oct 9.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.

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October 2017

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Authors:
Pauline Vachin Elodie Adda-Herzog Gihad Chalouhi Caroline Elie Marlène Rio Sophie Rondeau Nadine Gigarel Fabienne Jabot Hanin Sophie Monnot Roxana Borghese Joana Bengoa Yves Ville Agnes Rotig Arnold Munnich Jean-Paul Bonnefont Julie Steffann

J Med Genet 2018 02 28;55(2):131-136. Epub 2017 Jul 28.

Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France.

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February 2018

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Authors:
Julien Cottineau Molly C Kottemann Francis P Lach Young-Hoon Kang Frédéric Vély Elissa K Deenick Tomi Lazarov Laure Gineau Yi Wang Andrea Farina Marie Chansel Lazaro Lorenzo Christelle Piperoglou Cindy S Ma Patrick Nitschke Aziz Belkadi Yuval Itan Bertrand Boisson Fabienne Jabot-Hanin Capucine Picard Jacinta Bustamante Céline Eidenschenk Soraya Boucherit Nathalie Aladjidi Didier Lacombe Pascal Barat Waseem Qasim Jane A Hurst Andrew J Pollard Holm H Uhlig Claire Fieschi Jean Michon Vladimir P Bermudez Laurent Abel Jean-Pierre de Villartay Frédéric Geissmann Stuart G Tangye Jerard Hurwitz Eric Vivier Jean-Laurent Casanova Agata Smogorzewska Emmanuelle Jouanguy

J Clin Invest 2017 May 17;127(5):1991-2006. Epub 2017 Apr 17.

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May 2017

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.

Authors:
Fabienne Jabot-Hanin Aurélie Cobat Jacqueline Feinberg Ghislain Grange Natascha Remus Christine Poirier Anne Boland-Auge Céline Besse Jacinta Bustamante Stéphanie Boisson-Dupuis Jean-Laurent Casanova Erwin Schurr Alexandre Alcaïs Eileen G Hoal Christophe Delacourt Laurent Abel

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.

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April 2016

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Authors:
Satoshi Okada Janet G Markle Elissa K Deenick Federico Mele Dina Averbuch Macarena Lagos Mohammed Alzahrani Saleh Al-Muhsen Rabih Halwani Cindy S Ma Natalie Wong Claire Soudais Lauren A Henderson Hiyam Marzouqa Jamal Shamma Marcela Gonzalez Rubén Martinez-Barricarte Chizuru Okada Danielle T Avery Daniela Latorre Caroline Deswarte Fabienne Jabot-Hanin Egidio Torrado Jeffrey Fountain Aziz Belkadi Yuval Itan Bertrand Boisson Mélanie Migaud Cecilia S Lindestam Arlehamn Alessandro Sette Sylvain Breton James McCluskey Jamie Rossjohn Jean-Pierre de Villartay Despina Moshous Sophie Hambleton Sylvain Latour Peter D Arkwright Capucine Picard Olivier Lantz Dan Engelhard Masao Kobayashi Laurent Abel Andrea M Cooper Luigi D Notarangelo Stéphanie Boisson-Dupuis Anne Puel Federica Sallusto Jacinta Bustamante Stuart G Tangye Jean-Laurent Casanova

Science 2015 Aug 9;349(6248):606-613. Epub 2015 Jul 9.

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

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August 2015

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.

Authors:
Laila Ait Baba Fatima Ailal Naima El Hafidi Marjorie Hubeau Fabienne Jabot-Hanin Noufissa Benajiba Zahra Aadam Francesca Conti Caroline Deswarte Leila Jeddane Ayoub Aglaguel Ouafaa El Maataoui Ahmed Tissent Chafiq Mahraoui Jilali Najib Ruben Martinez-Barricarte Laurent Abel Norddine Habti Rachid Saile Jean-Laurent Casanova Jacinta Bustamante Hanane Salih Alj Ahmed Aziz Bousfiha

J Clin Immunol 2014 May 5;34(4):452-8. Epub 2014 Mar 5.

Laboratory of Biology and Health URAC34-Metabolic and Immunologic pathology Research Team, Faculty of Science of Ben M'sik, King Hassan II University, Casablanca, Morocco.

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May 2014