Publications by authors named "Carmen Oleaga-Quintas"

17Publications

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Authors:
Carmen Oleaga-Quintas Edgar Borges de Oliveira-Júnior Jérémie Rosain Franck Rapaport Caroline Deswarte Antoine Guérin Sairaj Munavar Sajjath Yu Jerry Zhou Stéphane Marot Claire Lozano Lidia Branco Nuria Fernández-Hidalgo Dukhee Betty Lew Anne-Sophie Brunel Caroline Thomas Elise Launay Andrés Augusto Arias Alexis Cuffel Vanesa Cunill Monjo Anna-Lena Neehus Laura Marques Manon Roynard Marcela Moncada-Vélez Bengü Gerçeker Roger Colobran Marie-Gabrielle Vigué Gabriela Lopez-Herrera Laura Berron-Ruiz Nora Hilda Segura Méndez Patricia O'Farrill Romanillos Tom Le Voyer Anne Puel Christine Bellanné-Chantelot Kacy A Ramirez Lazaro Lorenzo-Diaz Noé Ramirez Alejo Rebeca Pérez de Diego Antonio Condino-Neto Fethi Mellouli Carlos Rodriguez-Gallego Torsten Witte José Franco Restrepo Mariana Jobim Stéphanie Boisson-Dupuis Eric Jeziorski Claire Fieschi Guillaume Vogt Jean Donadieu Marlène Pasquet Julia Vasconcelos Fatma Omur Ardeniz Mónica Martínez-Gallo Regis A Campos Luiz Fernando Jobim Rubén Martínez-Barricarte Kang Liu Aurélie Cobat Laurent Abel Jean-Laurent Casanova Jacinta Bustamante

J Clin Immunol 2021 Jan 8. Epub 2021 Jan 8.

Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, 24 Boulevard du Montparnasse, Paris, France.

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January 2021

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.

Authors:
Rui Yang Federico Mele Lisa Worley David Langlais Jérémie Rosain Ibithal Benhsaien Houda Elarabi Carys A Croft Jean-Marc Doisne Peng Zhang Marc Weisshaar David Jarrossay Daniela Latorre Yichao Shen Jing Han Masato Ogishi Conor Gruber Janet Markle Fatima Al Ali Mahbuba Rahman Taushif Khan Yoann Seeleuthner Gaspard Kerner Lucas T Husquin Julia L Maclsaac Mohamed Jeljeli Abderrahmane Errami Fatima Ailal Michael S Kobor Carmen Oleaga-Quintas Manon Roynard Mathieu Bourgey Jamila El Baghdadi Stéphanie Boisson-Dupuis Anne Puel Fréderic Batteux Flore Rozenberg Nico Marr Qiang Pan-Hammarström Dusan Bogunovic Lluis Quintana-Murci Thomas Carroll Cindy S Ma Laurent Abel Aziz Bousfiha James P Di Santo Laurie H Glimcher Philippe Gros Stuart G Tangye Federica Sallusto Jacinta Bustamante Jean-Laurent Casanova

Cell 2020 Dec 8;183(7):1826-1847.e31. Epub 2020 Dec 8.

St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015 Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY, USA. Electronic address:

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December 2020

Inherited human IFN-γ deficiency underlies mycobacterial disease.

Authors:
Gaspard Kerner Jérémie Rosain Antoine Guérin Ahmad Al-Khabaz Carmen Oleaga-Quintas Franck Rapaport Michel J Massaad Jing-Ya Ding Taushif Khan Fatima Al Ali Mahbuba Rahman Caroline Deswarte Rubén Martinez-Barricarte Raif S Geha Valentine Jeanne-Julien Diane Garcia Chih-Yu Chi Rui Yang Manon Roynard Bernhard Fleckenstein Flore Rozenberg Stéphanie Boisson-Dupuis Cheng-Lung Ku Yoann Seeleuthner Vivien Béziat Nico Marr Laurent Abel Waleed Al-Herz Jean-Laurent Casanova Jacinta Bustamante

J Clin Invest 2020 06;130(6):3158-3171

INSERM U1163, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM 1163, Paris, France.

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June 2020

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.

Authors:
Kathrin Haake Anna-Lena Neehus Theresa Buchegger Mark Philipp Kühnel Patrick Blank Friederike Philipp Carmen Oleaga-Quintas Ansgar Schulz Michael Grimley Ralph Goethe Danny Jonigk Ulrich Kalinke Stéphanie Boisson-Dupuis Jean-Laurent Casanova Jacinta Bustamante Nico Lachmann

Cells 2020 02 19;9(2). Epub 2020 Feb 19.

REBIRTH Cluster of Excellence, Institute of Experimental Hematology, Hannover Medical School (MHH), 30625 Hannover, Germany.

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February 2020

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.

Authors:
Jérémie Rosain Caroline Deswarte Gonca Hancioglu Carmen Oleaga-Quintas Seyhan Kutlug Ibrahim Kartal Isinsu Kuzu Laurie Toullec Maud Tusseau Jean-Laurent Casanova Alisan Yildiran Jacinta Bustamante

J Clin Immunol 2019 10 3;39(7):739-742. Epub 2019 Aug 3.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France.

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October 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Authors:
Carmen Oleaga-Quintas Caroline Deswarte Marcela Moncada-Vélez Ayse Metin Indumathi Krishna Rao Saliha Kanık-Yüksek Alejandro Nieto-Patlán Antoine Guérin Belgin Gülhan Savita Murthy Aslınur Özkaya-Parlakay Laurent Abel Rubén Martínez-Barricarte Rebeca Pérez de Diego Stéphanie Boisson-Dupuis Xiao-Fei Kong Jean-Laurent Casanova Jacinta Bustamante

Hum Mol Genet 2018 11;27(22):3919-3935

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

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November 2018

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

Authors:
Stéphanie Humblet-Baron Dean Franckaert James Dooley Fatima Ailal Aziz Bousfiha Caroline Deswarte Carmen Oleaga-Quintas Jean-Laurent Casanova Jacinta Bustamante Adrian Liston

J Allergy Clin Immunol 2019 06 19;143(6):2215-2226.e7. Epub 2018 Dec 19.

VIB Center for Brain & Disease Research, Leuven, Belgium; KU Leuven-University of Leuven, Department of Microbiology and Immunology, Leuven, Belgium. Electronic address:

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June 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Authors:
Carmen Oleaga-Quintas Caroline Deswarte Marcela Moncada-Vélez Ayse Metin Indumathi Krishna Rao Saliha Kanik-Yüksek Alejandro Nieto-Patlán Antoine Guérin Belgin Gülhan Savita Murthy Aslinur Özkaya-Parlakay Laurent Abel Rubén Martínez-Barricarte Rebeca Pérez de Diego Stéphanie Boisson-Dupuis Xiao-Fei Kong Jean-Laurent Casanova Jacinta Bustamante

Hum Mol Genet 2019 02;28(3):524

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

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February 2019

Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:
Jérémie Rosain Xiao-Fei Kong Ruben Martinez-Barricarte Carmen Oleaga-Quintas Noé Ramirez-Alejo Janet Markle Satoshi Okada Stéphanie Boisson-Dupuis Jean-Laurent Casanova Jacinta Bustamante

Immunol Cell Biol 2019 04 25;97(4):360-367. Epub 2018 Oct 25.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, Necker Hospital for Sick Children, Paris, France.

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April 2019

T-cell defects in patients with germline mutations account for combined immunodeficiency.

Authors:
Immacolata Brigida Matteo Zoccolillo Maria Pia Cicalese Laurène Pfajfer Federica Barzaghi Serena Scala Carmen Oleaga-Quintas Jesus A Álvarez-Álvarez Lucia Sereni Stefania Giannelli Claudia Sartirana Francesca Dionisio Luca Pavesi Marta Benavides-Nieto Luca Basso-Ricci Paola Capasso Benedetta Mazzi Jeremie Rosain Nufar Marcus Yu Nee Lee Raz Somech Massimo Degano Giuseppe Raiola Roberta Caorsi Paolo Picco Marcela Moncada Velez Joelle Khourieh Andrés Augusto Arias Aziz Bousfiha Thomas Issekutz Andrew Issekutz Bertrand Boisson Kerry Dobbs Anna Villa Angelo Lombardo Benedicte Neven Despina Moshous Jean-Laurent Casanova José Luis Franco Luigi D Notarangelo Cristina Scielzo Stefano Volpi Loïc Dupré Jacinta Bustamante Marco Gattorno Alessandro Aiuti

Blood 2018 11 25;132(22):2362-2374. Epub 2018 Sep 25.

San Raffaele Telethon Institute for Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy.

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November 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

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Authors:
Annemarie van de Geer Alejandro Nieto-Patlán Douglas B Kuhns Anton Tj Tool Andrés A Arias Matthieu Bouaziz Martin de Boer José Luis Franco Roel P Gazendam John L van Hamme Michel van Houdt Karin van Leeuwen Paul Jh Verkuijlen Timo K van den Berg Juan F Alzate Carlos A Arango-Franco Vritika Batura Andrea R Bernasconi Barbara Boardman Claire Booth Siobhan O Burns Felipe Cabarcas Nadine Cerf Bensussan Fabienne Charbit-Henrion Anniek Corveleyn Caroline Deswarte María Esnaola Azcoiti Dirk Foell John I Gallin Carlos Garcés Margarida Guedes Claas H Hinze Steven M Holland Stephen M Hughes Patricio Ibañez Harry L Malech Isabelle Meyts Marcela Moncada-Velez Kunihiko Moriya Esmeralda Neves Matias Oleastro Laura Perez Vimel Rattina Carmen Oleaga-Quintas Neil Warner Aleixo M Muise Jeanet Serafín López Eunice Trindade Julia Vasconcelos Séverine Vermeire Helmut Wittkowski Austen Worth Laurent Abel Mary C Dinauer Peter D Arkwright Dirk Roos Jean-Laurent Casanova Taco W Kuijpers Jacinta Bustamante

J Clin Invest 2018 08 6;128(9):3957-3975. Epub 2018 Aug 6.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

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August 2018

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.

Authors:
Ithaisa Sologuren María Teresa Martínez-Saavedra Jordi Solé-Violán Edgar de Borges de Oliveira Eva Betancor Inmaculada Casas Carmen Oleaga-Quintas Mónica Martínez-Gallo Shen-Ying Zhang Jose Pestano Roger Colobran Estefanía Herrera-Ramos Carmen Pérez Marta López-Rodríguez José Juan Ruiz-Hernández Nieves Franco José María Ferrer Cristina Bilbao Miguel Andújar-Sánchez Mercedes Álvarez Fernández Michael J Ciancanelli Felipe Rodríguez de Castro Jean-Laurent Casanova Jacinta Bustamante Carlos Rodríguez-Gallego

J Clin Immunol 2018 05 7;38(4):513-526. Epub 2018 Jun 7.

Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain.

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May 2018

IRF4 haploinsufficiency in a family with Whipple's disease.

Authors:
Antoine Guérin Gaspard Kerner Nico Marr Janet G Markle Florence Fenollar Natalie Wong Sabri Boughorbel Danielle T Avery Cindy S Ma Salim Bougarn Matthieu Bouaziz Vivien Béziat Erika Della Mina Carmen Oleaga-Quintas Tomi Lazarov Lisa Worley Tina Nguyen Etienne Patin Caroline Deswarte Rubén Martinez-Barricarte Soraya Boucherit Xavier Ayral Sophie Edouard Stéphanie Boisson-Dupuis Vimel Rattina Benedetta Bigio Guillaume Vogt Frédéric Geissmann Lluis Quintana-Murci Damien Chaussabel Stuart G Tangye Didier Raoult Laurent Abel Jacinta Bustamante Jean-Laurent Casanova

Elife 2018 03 14;7. Epub 2018 Mar 14.

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

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March 2018

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Authors:
Ana Esteve-Solé Ithaisa Sologuren María Teresa Martínez-Saavedra Àngela Deyà-Martínez Carmen Oleaga-Quintas Rubén Martinez-Barricarte Andrea Martin-Nalda Manel Juan Jean-Laurent Casanova Carlos Rodriguez-Gallego Laia Alsina Jacinta Bustamante

Crit Rev Clin Lab Sci 2018 05 4;55(3):184-204. Epub 2018 Mar 4.

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

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May 2018

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

Authors:
Andrés Augusto Arias Carlos M Perez-Velez Julio César Orrego Marcela Moncada-Velez Jessica Lineth Rojas Alejandra Wilches Andrea Restrepo Mónica Trujillo Carlos Garcés Catalina Arango-Ferreira Natalia González Carmen Oleaga-Quintas Diana Fernández Johana Marcela Isaza-Correa Diego Eduardo Gongóra Daniel Gonzalez-Loaiza Juan Esteban Sierra Jean Laurent Casanova Jacinta Bustamante José Luis Franco

J Clin Immunol 2017 Oct 1;37(7):732-738. Epub 2017 Sep 1.

Grupo de Inmunodeficiencias Primarias, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia UdeA, Calle 70 No, 52-21, Medellín, Colombia.

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October 2017

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

Authors:
Bahar Göktürk İsmail Reisli Ümran Çalışkan Carmen Oleaga-Quintas Caroline Deswarte Tuba Turul-Özgür Durmuş Burgucu Melanie Migaud Jean-Laurent Casanova Capucine Picard Jacinta Bustamante

Turk J Pediatr 2016 ;58(3):331-336

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, INSERM-U1163, Paris, France.

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June 2017