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Aurélie Cobat
Researcher at French Institute of Health and Medical Research
Publications - 126
Citations - 9607
Aurélie Cobat is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 30, co-authored 101 publications receiving 6047 citations. Previous affiliations of Aurélie Cobat include McGill University Health Centre & Rockefeller University.
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Journal ArticleDOI
A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy.
Vinicius M. Fava,Vinicius M. Fava,Jeremy Manry,Jeremy Manry,Aurélie Cobat,Aurélie Cobat,Marianna Orlova,Marianna Orlova,Nguyen Van Thuc,Nguyen Ngoc Ba,Vu Hong Thai,Laurent Abel,Laurent Abel,Laurent Abel,Alexandre Alcaïs,Erwin Schurr,Erwin Schurr +16 more
TL;DR: The results support a preferential association of LRRK2 variants with T1R, likely due to a pathological pro-inflammatory loop modulated by L RRK2 availability.
Journal ArticleDOI
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Carolina Prando,Arina Samarina,Jacinta Bustamante,Stéphanie Boisson-Dupuis,Aurélie Cobat,Capucine Picard,Zobaida Alsum,Suliman Al-Jumaah,Sami Al-Hajjar,Husn H. Frayha,Hamoud Al-Mousa,Imen Ben-Mustapha,Parisa Adimi,Jacqueline Feinberg,Maylis de Suremain,Lucile Janniere,Orchidée Filipe-Santos,Nahal Mansouri,Jean-Louis Stephan,Revathy Nallusamy,Dinakantha S. Kumararatne,Mohamad Reza Bloorsaz,Meriem Ben-Ali,Houda Elloumi-Zghal,Jalel Chemli,Jihene Bouguila,Mohamed Bejaoui,Emadia Alaki,Tariq S. AlFawaz,Eman Al Idrissi,Gehad ElGhazali,Andrew J. Pollard,Murugasu B,Bee Wah Lee,Rabih Halwani,Mohammed Alzahrani,Mohammed A. Al Shehri,Mofareh AlZahrani,Ibrahim Bin-Hussain,Seyed Alireza Mahdaviani,Nima Parvaneh,Laurent Abel,Davood Mansouri,Ridha Barbouche,Saleh Al-Muhsen,Jean-Laurent Casanova +45 more
TL;DR: In this article, the authors report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, India, and Iran).
Journal ArticleDOI
Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis
Aurélie Cobat,Aurélie Cobat,Caroline J. Gallant,Leah Simkin,Gillian F. Black,Kim Stanley,Jane Hughes,T. Mark Doherty,Willem A. Hanekom,Brian Eley,Jean-Philippe Jais,Anne Boland-Auge,Paul D. van Helden,Jean-Laurent Casanova,Jean-Laurent Casanova,Jean-Laurent Casanova,Laurent Abel,Laurent Abel,Laurent Abel,Eileen G. Hoal,Erwin Schurr,Alexandre Alcaïs,Alexandre Alcaïs,Alexandre Alcaïs +23 more
TL;DR: A genome-wide linkage search for loci that have an impact on TST reactivity pave the way for the understanding of the molecular mechanisms involved in resistance to M. tuberculosis infection in endemic areas and for the identification of critical regulators of T cell–dependent DTH to tuberculin (TST2).
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Exome and genome sequencing for inborn errors of immunity
Isabelle Meyts,Barbara Bosch,Barbara Bosch,Alexandre Bolze,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Yuval Itan,Aziz Belkadi,Aziz Belkadi,Vincent Pedergnana,Vincent Pedergnana,Vincent Pedergnana,Leen Moens,Capucine Picard,Aurélie Cobat,Aurélie Cobat,Xavier Bossuyt,Laurent Abel,Laurent Abel,Laurent Abel,Jean-Laurent Casanova +21 more
TL;DR: The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly the growing field of inborn errors of immunity, and whole-genome sequencing (WES) is presently the most cost-effective approach for research and diagnostics.
Journal ArticleDOI
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Noé Ramírez-Alejo,Zhi Li,Zhi Li,Etienne Patin,Etienne Patin,Geetha Rao,Gaspard Kerner,Gaspard Kerner,Che Kang Lim,Che Kang Lim,Dimitry N. Krementsov,Nicholas Hernandez,Cindy S. Ma,Cindy S. Ma,Qian Zhang,Qian Zhang,Janet Markle,Rubén Martínez-Barricarte,Kathryn Payne,Robert Fisch,Caroline Deswarte,Caroline Deswarte,Joshua Halpern,Matthieu Bouaziz,Matthieu Bouaziz,Jeanette Mulwa,Durga Sivanesan,Durga Sivanesan,Tomi Lazarov,Rodrigo Naves,Patricia García,Yuval Itan,Yuval Itan,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Alix Checchi,Alix Checchi,Fabienne Jabot-Hanin,Fabienne Jabot-Hanin,Aurélie Cobat,Aurélie Cobat,Andrea Guennoun,Carolyn C. Jackson,Carolyn C. Jackson,Sevgi Pekcan,Zafer Caliskaner,Jaime Inostroza,Beatriz Tavares Costa-Carvalho,Jose Antonio Tavares de Albuquerque,Humberto García-Ortiz,Lorena Orozco,Tayfun Ozcelik,Ahmed Abid,Ismail Abderahmani Rhorfi,Hicham Souhi,Hicham Naji Amrani,Adil Zegmout,Frederic Geissmann,Stephen W. Michnick,Ingrid Müller-Fleckenstein,Bernhard Fleckenstein,Anne Puel,Anne Puel,Anne Puel,Michael J. Ciancanelli,Nico Marr,Hassan Abolhassani,Hassan Abolhassani,María Elvira Balcells,Antonio Condino-Neto,Alexis Strickler,Katia Abarca,Cory Teuscher,Hans D. Ochs,Ismail Reisli,Esra Hazar Sayar,Jamila El-Baghdadi,Jacinta Bustamante,Lennart Hammarström,Lennart Hammarström,Lennart Hammarström,Stuart G. Tangye,Stuart G. Tangye,Sandra Pellegrini,Sandra Pellegrini,Lluis Quintana-Murci,Lluis Quintana-Murci,Laurent Abel,Laurent Abel,Laurent Abel,Jean-Laurent Casanova +94 more
TL;DR: Homozygosity for the catalytically inactive P1104A missense variant of the TYK2 Janus kinase selectively disrupts the induction of IFN-γ by IL-23 and is a common monogenic etiology of tuberculosis.