Roger Colobran

Affiliations
  • Servicio de Inmunología. Hospital Universitari Vall d'Hebron. Institut de Recerca Vall d'Hebron. Centro Jeffrey Modell para el diagnóstico e investigación en inmunodeficiencias primarias. Universitat Autónoma de Barcelona. Barcelona. España.
  • Servicio de Genética. Hospital Universitari Vall d'Hebron. Institut de Recerca Vall d'Hebron. Centro Jeffrey Modell para el diagnóstico e investigación en inmunodeficiencias primarias. Universitat Autónoma de Barcelona. Barcelona. España.

Publications (45)

[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]

Revista espanola de salud publica
Avec: Ana Argudo Ramírez , Andrea Martín Nalda , José Luis Marín Soria , Rosa María López Galera , José Manuel González de Aledo Castillo , Sonia Pajares García , Jacques G Rivière , Mónica Martínez Gallo , Roger Colobran , Alba Parra Martínez , Antonia Ribes Rubio , Rosa María Fernández Bardon , Laia Asso Ministral , Blanca Prats Viedma , Judit García Villoria , Pere Soler Palacín

Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019-2020.

Emerging infectious diseases
Avec: Dolores Álamo-Junquera , Julieta Politi , Pere Simón , Romina Dieli-Crimi , Ricardo Pujol Borrell , Roger Colobran , Monica Martínez-Gallo , Magda Campins , Andrés Antón , Juliana Esperalba , Cristina Andrés , María Gema Codina , Eva Polverino , M Rosa Narciso , Emilia Molinero , Cristina Rius

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis.

Frontiers in immunology
Avec: Laura Viñas-Giménez , Rafael Rincón , Roger Colobran , Xavier de la Cruz , Verónica Paola Celis , José Luis Dapena , Laia Alsina , Joan Sayós , Mónica Martínez-Gallo

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Frontiers in immunology
Avec: Laura Batlle-Masó , Marina Garcia-Prat , Alba Parra-Martínez , Clara Franco-Jarava , Aina Aguiló-Cucurull , Pablo Velasco , María Antolín , Jacques G Rivière , Andrea Martín-Nalda , Pere Soler-Palacín , Mónica Martínez-Gallo , Roger Colobran

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Human mutation
Avec: Mattia Bosio , Oliver Drechsel , Rubayte Rahman , Francesc Muyas , Raquel Rabionet , Daniela Bezdan , Laura Domenech Salgado , Hyun Hor , Jean-Jacques Schott , Francina Munell , Roger Colobran , Alfons Macaya , Xavier Estivill , Stephan Ossowski

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Journal of clinical immunology
Avec: Marina Garcia-Prat , Laura Batlle-Masó , Alba Parra-Martínez , Clara Franco-Jarava , Mónica Martinez-Gallo , Aina Aguiló-Cucurull , Janire Perurena-Prieto , Neus Castells , Blanca Urban , Romina Dieli-Crimi , Pere Soler-Palacín , Roger Colobran

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.

EClinicalMedicine
Avec: Veronica Davalos , Carlos A García-Prieto , Gerardo Ferrer , Sergio Aguilera-Albesa , Juan Valencia-Ramos , Agustí Rodríguez-Palmero , Montserrat Ruiz , Laura Planas-Serra , Iolanda Jordan , Iosune Alegría , Patricia Flores-Pérez , Verónica Cantarín , Victoria Fumadó , Maria Teresa Viadero , Carlos Rodrigo , Maria Méndez-Hernández , Eduardo López-Granados , Roger Colobran , Jacques G Rivière , Pere Soler-Palacín , Aurora Pujol , Manel Esteller

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Genome medicine
Avec: Daniela Matuozzo , Estelle Talouarn , Astrid Marchal , Peng Zhang , Jeremy Manry , Yoann Seeleuthner , Yu Zhang , Alexandre Bolze , Matthieu Chaldebas , Baptiste Milisavljevic , Adrian Gervais , Paul Bastard , Takaki Asano , Lucy Bizien , Federica Barzaghi , Hassan Abolhassani , Ahmad Abou Tayoun , Alessandro Aiuti , Ilad Alavi Darazam , Luis M Allende , Rebeca Alonso-Arias , Andrés Augusto Arias , Gokhan Aytekin , Peter Bergman , Simone Bondesan , Yenan T Bryceson , Ingrid G Bustos , Oscar Cabrera-Marante , Sheila Carcel , Paola Carrera , Giorgio Casari , Khalil Chaïbi , Roger Colobran , Antonio Condino-Neto , Laura E Covill , Ottavia M Delmonte , Loubna El Zein , Carlos Flores , Peter K Gregersen , Marta Gut , Filomeen Haerynck , Rabih Halwani , Selda Hancerli , Lennart Hammarström , Nevin Hatipoğlu , Adem Karbuz , Sevgi Keles , Christèle Kyheng , Rafael Leon-Lopez , Jose Luis Franco , Davood Mansouri , Javier Martinez-Picado , Ozge Metin Akcan , Isabelle Migeotte , Pierre-Emmanuel Morange , Guillaume Morelle , Andrea Martin-Nalda , Giuseppe Novelli , Antonio Novelli , Tayfun Ozcelik , Figen Palabiyik , Qiang Pan-Hammarström , Rebeca Pérez de Diego , Laura Planas-Serra , Daniel E Pleguezuelo , Carolina Prando , Aurora Pujol , Luis Felipe Reyes , Jacques G Rivière , Carlos Rodriguez-Gallego , Julian Rojas , Patrizia Rovere-Querini , Agatha Schlüter , Mohammad Shahrooei , Ali Sobh , Pere Soler-Palacin , Yacine Tandjaoui-Lambiotte , Imran Tipu , Cristina Tresoldi , Jesus Troya , Diederik van de Beek , Mayana Zatz , Pawel Zawadzki , Saleh Zaid Al-Muhsen , Mohammed Faraj Alosaimi , Fahad M Alsohime , Hagit Baris-Feldman , Manish J Butte , Stefan N Constantinescu , Megan A Cooper , Clifton L Dalgard , Jacques Fellay , James R Heath , Yu-Lung Lau , Richard P Lifton , Tom Maniatis , Trine H Mogensen , Horst von Bernuth , Alban Lermine , Michel Vidaud , Anne Boland , Jean-François Deleuze , Robert Nussbaum , Amanda Kahn-Kirby , France Mentre , Sarah Tubiana , Guy Gorochov , Florence Tubach , Pierre Hausfater , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Isabelle Meyts , Shen-Ying Zhang , Anne Puel , Luigi D Notarangelo , Stephanie Boisson-Dupuis , Helen C Su , Bertrand Boisson , Emmanuelle Jouanguy , Jean-Laurent Casanova , Qian Zhang , Laurent Abel , Aurélie Cobat

Analysis of the PD-1/PD-L1 axis in human autoimmune thyroid disease: Insights into pathogenesis and clues to immunotherapy associated thyroid autoimmunity.

Journal of autoimmunity
Avec: Daniel Álvarez-Sierra , Ana Marín-Sánchez , Paloma Ruiz-Blázquez , Carmen de Jesús Gil , Carmela Iglesias-Felip , Óscar González , Anna Casteras , Roser Ferrer Costa , Paolo Nuciforo , Roger Colobran , Ricardo Pujol-Borrell

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.

Research square
Avec: Jeremy Manry , Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesus Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Mégarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James Heath , Jose Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia Delmonte , Yu Zhang , Andrew Snow , Steve Holland , Catherine Biggs , Marcela Moncada-Vélez , Andrés Arias , Lazaro Lorenzo , Soraya Boucherit , Dany Anglicheau , Anna Planas , Filomeen Haerynck , Sotirija Duvlis , Robert Nussbaum , Tayfun Ozcelik , Sevgi Keles , Aziz Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarstrom , Lennart Hammarstrom , Annabelle Dupont , Alina Kurolap , Christine Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam Dyer , Sean Kennelly , Nollaig Bourke , Rabih Halwani , Fatemeh Sharif-Askari , Karim Dorgham , Jérôme Sallette , Souad Mehlal-Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald Vinh , Christian Erikstrup , Antonio Condino-Neto , Carolina Prando , Anastasiia Bondarenko , András Spaan , Laurent Gilardin , Jacques Fellay , Stanislas Lyonnet , Kaya Bilguvar , Richard Lifton , Shrikant Mane , Mark Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Andreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine Hyrup Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier deLamballerie , Charles Burdet , Lila Bouadma , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter Gregersen , Carlos Rodríguez-Gallego , Lorenzo Piemonti , Luigi Notarangelo , Helen Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles Rice , Pierre Tiberghien , Qian Zhang , Jean-Laurent Casanova , Laurent Abel , Aurélie Cobat

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

The Journal of allergy and clinical immunology
Avec: Anna Mensa-Vilaró , María Bravo García-Morato , Oscar de la Calle-Martin , Clara Franco-Jarava , María Teresa Martínez-Saavedra , Luis I González-Granado , Eva González-Roca , Jose Luis Fuster , Laia Alsina , Osvaldo M Mutchinick , Angélica Balderrama-Rodríguez , Eduardo Ramos , Consuelo Modesto , Pablo Mesa-Del-Castillo , Norberto Ortego-Centeno , Daniel Clemente , Alejandro Souto , Natalia Palmou , Agustín Remesal , Kieron S Leslie , Enrique Gómez de la Fuente , Luz Yadira Bravo Gallego , Josep María Campistol , Naouel Guirat Dhouib , Mohamed Bejaoui , Lívia Almeida Dutra , Maria Teresa Terreri , Catalina Mosquera , Tatiana González , Jerónima Cañellas , José María García-Ruiz de Morales , Carine H Wouters , María Teresa Bosque , Weng Tarng Cham , Santiago Jiménez-Treviño , Jaime de Inocencio , Markéta Bloomfield , Rebeca Pérez de Diego , Natalia Martínez-Pomar , Rebeca Rodríguez-Pena , Cecilia González-Santesteban , Pere Soler-Palacín , Ferran Casals , Jordi Yagüe , Luis M Allende , José Carlos Rodríguez-Gallego , Roger Colobran , Laura Martínez-Martínez , Eduardo López-Granados , Juan I Aróstegui

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

Journal of clinical immunology
Avec: 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

Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.

Nucleic acids research
Avec: Francesc Català-Moll , Anna G Ferreté-Bonastre , Tianlu Li , Dieter Weichenhan , Pavlo Lutsik , Laura Ciudad , Ángel F Álvarez-Prado , Javier Rodríguez-Ubreva , Christian Klemann , Carsten Speckmann , Amaya Vilas-Zornoza , Hassan Abolhassani , Mónica Martínez-Gallo , Romina Dieli-Crimi , Jacques G Rivière , Andrea Martín-Nalda , Roger Colobran , Pere Soler-Palacín , Sven Kracker , Lennart Hammarström , Felipe Prosper , Anne Durandy , Bodo Grimbacher , Christoph Plass , Esteban Ballestar

Epigenome-wide association study of COVID-19 severity with respiratory failure.

EBioMedicine
Avec: Manuel Castro de Moura , Veronica Davalos , Laura Planas-Serra , Damiana Alvarez-Errico , Carles Arribas , Montserrat Ruiz , Sergio Aguilera-Albesa , Jesús Troya , Juan Valencia-Ramos , Valentina Vélez-Santamaria , Agustí Rodríguez-Palmero , Judit Villar-Garcia , Juan P Horcajada , Sergiu Albu , Carlos Casasnovas , Anna Rull , Laia Reverte , Beatriz Dietl , David Dalmau , Maria J Arranz , Laia Llucià-Carol , Anna M Planas , Jordi Pérez-Tur , Israel Fernandez-Cadenas , Paula Villares , Jair Tenorio , Roger Colobran , Andrea Martin-Nalda , Pere Soler-Palacin , Francesc Vidal , Aurora Pujol , Manel Esteller

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome.

Journal of clinical immunology
Avec: Louise Malle , Paul Bastard , Andrea Martin-Nalda , Taya Carpenter , Douglas Bush , Roosheel Patel , Roger Colobran , Pere Soler-Palacin , Jean-Laurent Casanova , Melissa Gans , Jacques G Rivière , Dusan Bogunovic

Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona.

Journal of clinical immunology
Avec: Xavier Solanich , Raúl Rigo-Bonnin , Victor-David Gumucio , Paul Bastard , Jérémie Rosain , Quentin Philippot , Xosé-Luis Perez-Fernandez , Maria-Paz Fuset-Cabanes , Miguel-Ángel Gordillo-Benitez , Guillermo Suarez-Cuartin , Enric Boza-Hernandez , Antoni Riera-Mestre , Alba Parra-Martínez , Roger Colobran , Arnau Antolí , Sergio Navarro , Gemma Rocamora-Blanch , Mario Framil , Laura Calatayud , Xavier Corbella , Jean-Laurent Casanova , Francisco Morandeira , Joan Sabater-Riera

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.

Frontiers in immunology
Avec: Clara Franco-Jarava , Irene Valenzuela , Jacques G Riviere , Marina Garcia-Prat , Mónica Martínez-Gallo , Romina Dieli-Crimi , Neus Castells , Laura Batlle-Masó , Pere Soler-Palacin , Roger Colobran

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Journal of clinical immunology
Avec: Laura Batlle-Masó , Jacques G Rivière , Clara Franco-Jarava , Andrea Martín-Nalda , Marina Garcia-Prat , Alba Parra-Martínez , Aina Aguiló-Cucurull , Neus Castells , Mónica Martinez-Gallo , Pere Soler-Palacín , Roger Colobran

Regulation of

Frontiers in immunology
Avec: Ana Marín-Sánchez , Daniel Álvarez-Sierra , Oscar González , Ana Lucas-Martin , Alicia Sellés-Sánchez , Francesc Rudilla , Emma Enrich , Roger Colobran , Ricardo Pujol-Borrell

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).

Molecular genetics & genomic medicine
Avec: Andrea Martin-Nalda , Anna M Cueto-González , Ana Argudo-Ramírez , Jose L Marin-Soria , Monica Martinez-Gallo , Roger Colobran , Albert Plaja , Neus Castells , Jacques Riviere , Eduardo F Tizzano , Pere Soler-Palacin

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.

Frontiers in immunology
Avec: Jacques G Rivière , Clara Franco-Jarava , Mónica Martínez-Gallo , Aina Aguiló-Cucurull , Laura Blasco-Pérez , Ida Paramonov , María Antolín , Andrea Martín-Nalda , Pere Soler-Palacín , Roger Colobran

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.

International journal of hematology
Avec: Laura Viñas-Giménez , Laura Donadeu , Laia Alsina , Rafael Rincón , Elena Álvarez de la Campa , Ana Esteve-Sole , Albert Català , Roger Colobran , Xavier de la Cruz , Joan Sayós , Mónica Martínez-Gallo

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.

EBioMedicine
Avec: Margherita Baldassarri , Nicola Picchiotti , Francesca Fava , Chiara Fallerini , Elisa Benetti , Sergio Daga , Floriana Valentino , Gabriella Doddato , Simone Furini , Annarita Giliberti , Rossella Tita , Sara Amitrano , Mirella Bruttini , Susanna Croci , Ilaria Meloni , Anna Maria Pinto , Nicola Iuso , Chiara Gabbi , Francesca Sciarra , Mary Anna Venneri , Marco Gori , Maurizio Sanarico , Francis P Crawley , Uberto Pagotto , Flaminia Fanelli , Marco Mezzullo , Elena Dominguez-Garrido , Laura Planas-Serra , Agatha Schlüter , Roger Colobran , Pere Soler-Palacin , Pablo Lapunzina , Jair Tenorio , Aurora Pujol , Maria Grazia Castagna , Marco Marcelli , Andrea M Isidori , Alessandra Renieri , Elisa Frullanti , Francesca Mari , Auteur inconnu

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the

Frontiers in immunology
Avec: Mireia Boluda-Navarro , Mariam Ibáñez , Alessandro Liquori , Clara Franco-Jarava , Mónica Martínez-Gallo , Héctor Rodríguez-Vega , Jaijo Teresa , Carmen Carreras , Esperanza Such , Ángel Zúñiga , Roger Colobran , José Vicente Cervera

[50 years of the Neonatal Screening Program in Catalonia.]

Revista espanola de salud publica
Avec: Jose Luis Marín Soria , Rosa Mª López Galera , Ana Argudo Ramírez , Jose Manuel González de Aledo , Sonia Pajares García , Aleix Navarro Sastre , Jose Mª Hernandez Pérez , Antonia Ribes Rubio , Laura Gort Mas , Judit García Villoria , Silvia Gartner Tizano , Sandra Rovira Amigo , Oscar Asensio de la Cruz , Miguel García González , María Cols Roig , Jordi Costa Colomer , Celia Bádenas Orquin , Diego Yeste Fernández , Ariadna Campos Martorell , María Clemente León , Eduardo Mogas Viñals , Roser Ferrer Costa , Marina Giralt Arnaiz , Jaume Campistol Plana , Ángeles García Cazorla , David Beneitez Pastor , Ana Ortuño Cabrero , Adoración Blanco Álvarez , Barbara Tazón Vega , Gael Roué , Pablo Velasco Puyo , Thais Murciano Carrillo , Laura Murillo Sanjuan , Cristina Díaz de Heredia Rubio , Mª Del Mar Mañú Pereira , Josep Lluis Vives Corrons , José Antonio Arranz Amo , Clara Carnicer Cáceres , Mireia Del Toro Riera , Aida Ormazábal Herrero , Rafael Artuch Iriberri , Camila García-Volpe , Mariela Mercedes de Los Santos , Cristina Sierra March , Carlos José Ruiz Hernández , Silvia Mª Meavilla Olivas , Andrea Martín Nalda , Jacques G Rivière , Alba Parra Martínez , Pere Soler Palacín , Mónica Martínez Gallo , Roger Colobran , Teresa Casals Senent , Mercè Armelles Sebastia , Mª José Vidal Benede , Mireia Jané Checa , Rosa Mª Fernández Bordón , Laia Asso Ministral , Blanca Prats Viedma , Carmen Cabezas Peña

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Science immunology
Avec: Takaki Asano , Bertrand Boisson , Fanny Onodi , Daniela Matuozzo , Marcela Moncada-Velez , Majistor Raj Luxman Maglorius Renkilaraj , Peng Zhang , Laurent Meertens , Alexandre Bolze , Marie Materna , Sarantis Korniotis , Adrian Gervais , Estelle Talouarn , Benedetta Bigio , Yoann Seeleuthner , Kaya Bilguvar , Yu Zhang , Anna-Lena Neehus , Masato Ogishi , Simon J Pelham , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Pere Soler-Palacín , Roger Colobran , Andrea Martin-Nalda , Jacques G Rivière , Yacine Tandjaoui-Lambiotte , Khalil Chaïbi , Mohammad Shahrooei , Ilad Alavi Darazam , Nasrin Alipour Olyaei , Davood Mansouri , Nevin Hatipoğlu , Figen Palabiyik , Tayfun Ozcelik , Giuseppe Novelli , Antonio Novelli , Giorgio Casari , Alessandro Aiuti , Paola Carrera , Simone Bondesan , Federica Barzaghi , Patrizia Rovere-Querini , Cristina Tresoldi , Jose Luis Franco , Julian Rojas , Luis Felipe Reyes , Ingrid G Bustos , Andres Augusto Arias , Guillaume Morelle , Kyheng Christèle , Jesús Troya , Laura Planas-Serra , Agatha Schlüter , Marta Gut , Aurora Pujol , Luis M Allende , Carlos Rodriguez-Gallego , Carlos Flores , Oscar Cabrera-Marante , Daniel E Pleguezuelo , Rebeca Pérez de Diego , Sevgi Keles , Gokhan Aytekin , Ozge Metin Akcan , Yenan T Bryceson , Peter Bergman , Petter Brodin , Daniel Smole , C I Edvard Smith , Anna-Carin Norlin , Tessa M Campbell , Laura E Covill , Lennart Hammarström , Qiang Pan-Hammarström , Hassan Abolhassani , Shrikant Mane , Nico Marr , Manar Ata , Fatima Al Ali , Taushif Khan , András N Spaan , Clifton L Dalgard , Paolo Bonfanti , Andrea Biondi , Sarah Tubiana , Charles Burdet , Robert Nussbaum , Amanda Kahn-Kirby , Andrew L Snow , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Jacinta Bustamante , Anne Puel , Stéphanie Boisson-Dupuis , Shen-Ying Zhang , Vivien Béziat , Richard P Lifton , Paul Bastard , Luigi D Notarangelo , Laurent Abel , Helen C Su , Emmanuelle Jouanguy , Ali Amara , Vassili Soumelis , Aurélie Cobat , Qian Zhang , Jean-Laurent Casanova

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.

The Journal of experimental medicine
Avec: Paul Bastard , Adrian Gervais , Maki Taniguchi , Liisa Saare , Karita Särekannu , Tom Le Voyer , Quentin Philippot , Jérémie Rosain , Lucy Bizien , Takaki Asano , Marina Garcia-Prat , Alba Parra-Martínez , Mélanie Migaud , Miyuki Tsumura , Francesca Conti , Alexandre Belot , Jacques G Rivière , Tomohiro Morio , Junko Tanaka , Etienne Javouhey , Filomeen Haerynck , Sotirija Duvlis , Tayfun Ozcelik , Sevgi Keles , Yacine Tandjaoui-Lambiotte , Simon Escoda , Maya Husain , Qiang Pan-Hammarström , Lennart Hammarström , Gloria Ahlijah , Anthony Abi Haidar , Camille Soudee , Vincent Arseguel , Hassan Abolhassani , Sabina Sahanic , Ivan Tancevski , Yoko Nukui , Seiichi Hayakawa , George P Chrousos , Athanasios Michos , Elizabeth-Barbara Tatsi , Filippos Filippatos , Agusti Rodriguez-Palmero , Jesus Troya , Imran Tipu , Isabelle Meyts , Lucie Roussel , Sisse Rye Ostrowski , Laire Schidlowski , Carolina Prando , Antonio Condino-Neto , Nathalie Cheikh , Ahmed A Bousfiha , Jalila El Bakkouri , Auteur inconnu , Auteur inconnu , Auteur inconnu , Pärt Peterson , Aurora Pujol , Romain Lévy , Pierre Quartier , Donald C Vinh , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Alessandro Borghesi , Andrea Pession , Evangelos Andreakos , Nico Marr , Alexios-Fotios A Mentis , Trine H Mogensen , Carlos Rodríguez-Gallego , Pere Soler-Palacin , Roger Colobran , Vallo Tillmann , Bénédicte Neven , Sophie Trouillet-Assant , Petter Brodin , Laurent Abel , Emmanuelle Jouanguy , Qian Zhang , Federico Martinón-Torres , Antonio Salas , Alberto Gómez-Carballa , Luis I Gonzalez-Granado , Kai Kisand , Satoshi Okada , Anne Puel , Aurélie Cobat , Jean-Laurent Casanova

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

medRxiv : the preprint server for health sciences
Avec: Daniela Matuozzo , Estelle Talouarn , Astrid Marchal , Jeremy Manry , Yoann Seeleuthner , Yu Zhang , Alexandre Bolze , Matthieu Chaldebas , Baptiste Milisavljevic , Peng Zhang , Adrian Gervais , Paul Bastard , Takaki Asano , Lucy Bizien , Federica Barzaghi , Hassan Abolhassani , Ahmad Abou Tayoun , Alessandro Aiuti , Ilad Alavi Darazam , Luis M Allende , Rebeca Alonso-Arias , Andrés Augusto Arias , Gokhan Aytekin , Peter Bergman , Simone Bondesan , Yenan T Bryceson , Ingrid G Bustos , Oscar Cabrera-Marante , Sheila Carcel , Paola Carrera , Giorgio Casari , Khalil Chaïbi , Roger Colobran , Antonio Condino-Neto , Laura E Covill , Loubna El Zein , Carlos Flores , Peter K Gregersen , Marta Gut , Filomeen Haerynck , Rabih Halwani , Selda Hancerli , Lennart Hammarström , Nevin Hatipoğlu , Adem Karbuz , Sevgi Keles , Christèle Kyheng , Rafael Leon-Lopez , Jose Luis Franco , Davood Mansouri , Javier Martinez-Picado , Ozge Metin Akcan , Isabelle Migeotte , Pierre-Emmanuel Morange , Guillaume Morelle , Andrea Martin-Nalda , Giuseppe Novelli , Antonio Novelli , Tayfun Ozcelik , Figen Palabiyik , Qiang Pan-Hammarström , Rebeca Pérez de Diego , Laura Planas-Serra , Daniel E Pleguezuelo , Carolina Prando , Aurora Pujol , Luis Felipe Reyes , Jacques G Rivière , Carlos Rodriguez-Gallego , Julian Rojas , Patrizia Rovere-Querini , Agatha Schlüter , Mohammad Shahrooei , Ali Sobh , Pere Soler-Palacin , Yacine Tandjaoui-Lambiotte , Imran Tipu , Cristina Tresoldi , Jesus Troya , Diederik van de Beek , Mayana Zatz , Pawel Zawadzki , Saleh Zaid Al-Muhsen , Hagit Baris-Feldman , Manish J Butte , Stefan N Constantinescu , Megan A Cooper , Clifton L Dalgard , Jacques Fellay , James R Heath , Yu-Lung Lau , Richard P Lifton , Tom Maniatis , Trine H Mogensen , Horst von Bernuth , Alban Lermine , Michel Vidaud , Anne Boland , Jean-François Deleuze , Robert Nussbaum , Amanda Kahn-Kirby , France Mentre , Sarah Tubiana , Guy Gorochov , Florence Tubach , Pierre Hausfater , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Isabelle Meyts , Shen-Ying Zhang , Anne Puel , Luigi D Notarangelo , Stephanie Boisson-Dupuis , Helen C Su , Bertrand Boisson , Emmanuelle Jouanguy , Jean-Laurent Casanova , Qian Zhang , Laurent Abel , Aurélie Cobat

Single cell transcriptomic analysis of Graves' disease thyroid glands reveals the broad immunoregulatory potential of thyroid follicular and stromal cells and implies a major re-interpretation of the role of aberrant HLA class II expression in autoimmunity.

Journal of autoimmunity
Avec: Daniel Álvarez-Sierra , Jorge Rodríguez-Grande , Aroa Gómez-Brey , Irene Bello , Enric Caubet , Óscar González , Carles Zafón , Carmela Iglesias , Pablo Moreno , Núria Ruiz , Ana Marín-Sánchez , Roger Colobran , Ricardo Pujol-Borrell

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

Journal of clinical immunology
Avec: Andrea Martín-Nalda , Claudia Fortuny , Lourdes Rey , Tom D Bunney , Laia Alsina , Ana Esteve-Solé , Daniel Bull , Maria Carmen Anton , María Basagaña , Ferran Casals , Angela Deyá , Marina García-Prat , Ramon Gimeno , Manel Juan , Helios Martinez-Banaclocha , Juan J Martinez-Garcia , Anna Mensa-Vilaró , Raquel Rabionet , Nieves Martin-Begue , Francesc Rudilla , Jordi Yagüe , Xavier Estivill , Vicente García-Patos , Ramon M Pujol , Pere Soler-Palacín , Matilda Katan , Pablo Pelegrín , Roger Colobran , Asun Vicente , Juan I Arostegui

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Frontiers in immunology
Avec: Francesc Rudilla , Clara Franco-Jarava , Mónica Martínez-Gallo , Marina Garcia-Prat , Andrea Martín-Nalda , Jacques Rivière , Aina Aguiló-Cucurull , Laura Mongay , Francisco Vidal , Xavier Solanich , Iñaki Irastorza , Juan Luis Santos-Pérez , Jesús Tercedor Sánchez , Ivon Cuscó , Clara Serra , Noelia Baz-Redón , Mónica Fernández-Cancio , Carmen Carreras , José Manuel Vagace , Vicenç Garcia-Patos , Ricardo Pujol-Borrell , Pere Soler-Palacín , Roger Colobran

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).

Frontiers in immunology
Avec: Ana Argudo-Ramírez , Andrea Martín-Nalda , Jose L Marín-Soria , Rosa M López-Galera , Sonia Pajares-García , Jose M González de Aledo-Castillo , Mónica Martínez-Gallo , Marina García-Prat , Roger Colobran , Jacques G Riviere , Yania Quintero , Tatiana Collado , Judit García-Villoria , Antonia Ribes , Pere Soler-Palacín

Extended immunophenotyping reference values in a healthy pediatric population.

Cytometry. Part B, Clinical cytometry
Avec: Marina Garcia-Prat , Daniel Álvarez-Sierra , Aina Aguiló-Cucurull , Sandra Salgado-Perandrés , Sara Briongos-Sebastian , Clara Franco-Jarava , Andrea Martin-Nalda , Roger Colobran , Isabel Montserrat , Manuel Hernández-González , Ricardo Pujol-Borrell , Pere Soler-Palacin , Mónica Martínez-Gallo

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Science (New York, N.Y.)
Avec: Qian Zhang , Paul Bastard , Zhiyong Liu , Jérémie Le Pen , Marcela Moncada-Velez , Jie Chen , Masato Ogishi , Ira K D Sabli , Stephanie Hodeib , Cecilia Korol , Jérémie Rosain , Kaya Bilguvar , Junqiang Ye , Alexandre Bolze , Benedetta Bigio , Rui Yang , Andrés Augusto Arias , Qinhua Zhou , Yu Zhang , Fanny Onodi , Sarantis Korniotis , Léa Karpf , Quentin Philippot , Marwa Chbihi , Lucie Bonnet-Madin , Karim Dorgham , Nikaïa Smith , William M Schneider , Brandon S Razooky , Hans-Heinrich Hoffmann , Eleftherios Michailidis , Leen Moens , Ji Eun Han , Lazaro Lorenzo , Lucy Bizien , Philip Meade , Anna-Lena Neehus , Aileen Camille Ugurbil , Aurélien Corneau , Gaspard Kerner , Peng Zhang , Franck Rapaport , Yoann Seeleuthner , Jeremy Manry , Cecile Masson , Yohann Schmitt , Agatha Schlüter , Tom Le Voyer , Taushif Khan , Juan Li , Jacques Fellay , Lucie Roussel , Mohammad Shahrooei , Mohammed F Alosaimi , Davood Mansouri , Haya Al-Saud , Fahd Al-Mulla , Feras Almourfi , Saleh Zaid Al-Muhsen , Fahad Alsohime , Saeed Al Turki , Rana Hasanato , Diederik van de Beek , Andrea Biondi , Laura Rachele Bettini , Mariella D'Angio' , Paolo Bonfanti , Luisa Imberti , Alessandra Sottini , Simone Paghera , Eugenia Quiros-Roldan , Camillo Rossi , Andrew J Oler , Miranda F Tompkins , Camille Alba , Isabelle Vandernoot , Jean-Christophe Goffard , Guillaume Smits , Isabelle Migeotte , Filomeen Haerynck , Pere Soler-Palacin , Andrea Martin-Nalda , Roger Colobran , Pierre-Emmanuel Morange , Sevgi Keles , Fatma Çölkesen , Tayfun Ozcelik , Kadriye Kart Yasar , Sevtap Senoglu , Şemsi Nur Karabela , Carlos Rodríguez-Gallego , Giuseppe Novelli , Sami Hraiech , Yacine Tandjaoui-Lambiotte , Xavier Duval , Cédric Laouénan , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Andrew L Snow , Clifton L Dalgard , Joshua D Milner , Donald C Vinh , Trine H Mogensen , Nico Marr , András N Spaan , Bertrand Boisson , Stéphanie Boisson-Dupuis , Jacinta Bustamante , Anne Puel , Michael J Ciancanelli , Isabelle Meyts , Tom Maniatis , Vassili Soumelis , Ali Amara , Michel Nussenzweig , Adolfo García-Sastre , Florian Krammer , Aurora Pujol , Darragh Duffy , Richard P Lifton , Shen-Ying Zhang , Guy Gorochov , Vivien Béziat , Emmanuelle Jouanguy , Vanessa Sancho-Shimizu , Charles M Rice , Laurent Abel , Luigi D Notarangelo , Aurélie Cobat , Helen C Su , Jean-Laurent Casanova

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

Clinical and experimental immunology
Avec: A Arcas-García , M Garcia-Prat , M Magallón-Lorenz , A Martín-Nalda , O Drechsel , S Ossowski , L Alonso , J G Rivière , P Soler-Palacín , R Colobran , J Sayós , M Martínez-Gallo , C Franco-Jarava

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.

International journal of neonatal screening
Avec: Andrea Martín-Nalda , Jacques G Rivière , Mireia Català-Besa , Marina García-Prat , Alba Parra-Martínez , Mónica Martínez-Gallo , Roger Colobran , Ana Argudo-Ramírez , Jose Luis Marín-Soria , Judit García-Villoria , Laura Alonso , Jose Antonio Arranz-Amo , Giancarlo la Marca , Pere Soler-Palacín

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.

The Journal of experimental medicine
Avec: Jie Chen , Huie Jing , Andrea Martin-Nalda , Paul Bastard , Jacques G Rivière , Zhiyong Liu , Roger Colobran , Danyel Lee , Wesley Tung , Jeremy Manry , Mary Hasek , Soraya Boucherit , Lazaro Lorenzo , Flore Rozenberg , Mélodie Aubart , Laurent Abel , Helen C Su , Pere Soler Palacin , Jean-Laurent Casanova , Shen-Ying Zhang

Autoantibodies neutralizing type I IFNs are present in

Science immunology
Avec: Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Jérémy Manry , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesus Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey B Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Megarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James R Heath , José Luis Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia M Delmonte , Yu Zhang , Andrew L Snow , Steven M Holland , Catherine Biggs , Marcela Moncada-Vélez , Andrés Augusto Arias , Lazaro Lorenzo , Soraya Boucherit , Boubacar Coulibaly , Dany Anglicheau , Anna M Planas , Filomeen Haerynck , Sotirija Duvlis , Robert L Nussbaum , Tayfun Ozcelik , Sevgi Keles , Ahmed A Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarström , Lennart Hammarström , Annabelle Dupont , Alina Kurolap , Christine N Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila A Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart G Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Y Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Felipe Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel C Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam H Dyer , Sean P Kennelly , Nollaig M Bourke , Rabih Halwani , Narjes Saheb Sharif-Askari , Karim Dorgham , Jérome Sallette , Souad Mehlal Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald C Vinh , Sisse Rye Ostrowski , Antonio Condino-Neto , Carolina Prando , Anastasiia Bonradenko , András N Spaan , Laurent Gilardin , Jacques Fellay , Stanislas Lyonnet , Kaya Bilguvar , Richard P Lifton , Shrikant Mane , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mark S Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Vandreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine H Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier de Lamballerie , Xavier Duval , France Mentré , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter K Gregersen , Lorenzo Piemonti , Carlos Rodríguez-Gallego , Luigi D Notarangelo , Helen C Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles M Rice , Pierre Tiberghien , Qian Zhang , Aurélie Cobat , Laurent Abel , Jean-Laurent Casanova

Newborn Screening for SCID. Experience in Spain (Catalonia).

International journal of neonatal screening
Avec: Ana Argudo-Ramírez , Andrea Martín-Nalda , Jose Manuel González de Aledo-Castillo , Rosa López-Galera , Jose Luis Marín-Soria , Sonia Pajares-García , Mónica Martínez-Gallo , Marina García-Prat , Roger Colobran , Jacques G Riviere , Yania Quintero , Tatiana Collado , Antonia Ribes , Judit García-Villoria , Pere Soler-Palacín

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.

Proceedings of the National Academy of Sciences of the United States of America
Avec: Jérémy Manry , Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesús Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey B Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Mégarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James R Heath , José Luis Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia M Delmonte , Yu Zhang , Andrew L Snow , Steven M Holland , Catherine M Biggs , Marcela Moncada-Vélez , Andrés Augusto Arias , Lazaro Lorenzo , Soraya Boucherit , Dany Anglicheau , Anna M Planas , Filomeen Haerynck , Sotirija Duvlis , Tayfun Ozcelik , Sevgi Keles , Ahmed A Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarström , Lennart Hammarström , Annabelle Dupont , Alina Kurolap , Christine N Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila A Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart G Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Y Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Felipe Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel C Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam H Dyer , Sean P Kennelly , Nollaig M Bourke , Rabih Halwani , Fatemeh Saheb Sharif-Askari , Karim Dorgham , Jérôme Sallette , Souad Mehlal Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald C Vinh , Christian Erikstrup , Antonio Condino-Neto , Carolina Prando , Anastasiia Bondarenko , András N Spaan , Laurent Gilardin , Jacques Fellay , Stanislas Lyonnet , Kaya Bilguvar , Richard P Lifton , Shrikant Mane , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mark S Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Andreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine H Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier de Lamballerie , Charles Burdet , Lila Bouadma , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter K Gregersen , Lorenzo Piemonti , Carlos Rodríguez-Gallego , Luigi D Notarangelo , Helen C Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles M Rice , Pierre Tiberghien , Qian Zhang , Jean-Laurent Casanova , Laurent Abel , Aurélie Cobat

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Frontiers in immunology
Avec: Moisés Labrador-Horrillo , Clara Franco-Jarava , Marina Garcia-Prat , Alba Parra-Martínez , María Antolín , Sandra Salgado-Perandrés , Aina Aguiló-Cucurull , Mónica Martinez-Gallo , Roger Colobran

Genome-wide detection of human variants that disrupt intronic branchpoints.

Proceedings of the National Academy of Sciences of the United States of America
Avec: Peng Zhang , Quentin Philippot , Weicheng Ren , Wei-Te Lei , Juan Li , Peter D Stenson , Pere Soler Palacín , Roger Colobran , Bertrand Boisson , Shen-Ying Zhang , Anne Puel , Qiang Pan-Hammarström , Qian Zhang , David N Cooper , Laurent Abel , Jean-Laurent Casanova

Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis.

Rheumatology (Oxford, England)
Avec: Janire Perurena-Prieto , Laura Viñas-Giménez , María Teresa Sanz-Martínez , Albert Selva-O'Callaghan , Eduardo Luis Callejas-Moraga , Roger Colobran , Alfredo Guillén- Del-Castillo , Carmen P Simeón-Aznar

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

Frontiers in immunology
Avec: José María García-Aznar , Emilia Maneiro Pampín , Maite García Ramos , María José Acuña Pérez , Nerea Paz Gandiaga , Laura Minguell Domingo , Olga Calavia , Pere Soler-Palacin , Roger Colobran , Erika M Novoa Bolívar , Javier Gonzalo Ocejo Vinyals

Prognostic value of anti-IFI16 autoantibodies in pulmonary arterial hypertension and mortality in patients with systemic sclerosis.

Medicina clinica
Avec: Janire Perurena-Prieto , Eduardo L Callejas-Moraga , María T Sanz-Martínez , Roger Colobran , Alfredo Guillén-Del-Castillo , Carmen P Simeón-Aznar

Réseau de co-auteurs

None None 78 collaborations
Jacques G Rivière 17 collaborations
Pere Soler-Palacin 14 collaborations
Mónica Martínez-Gallo 13 collaborations
Pere Soler-Palacín 13 collaborations
Jean-Laurent Casanova 13 collaborations
Marina Garcia-Prat 11 collaborations
Aurora Pujol 11 collaborations
Paul Bastard 11 collaborations
Laurent Abel 11 collaborations
Alba Parra-Martínez 10 collaborations
Clara Franco-Jarava 10 collaborations
Shen-Ying Zhang 10 collaborations
Anne Puel 10 collaborations
Andrea Martín-Nalda 9 collaborations
Andrea Martin-Nalda 9 collaborations
Bertrand Boisson 9 collaborations
Qian Zhang 9 collaborations
Aurélie Cobat 9 collaborations
Sevgi Keles 8 collaborations
Tayfun Ozcelik 8 collaborations
Yacine Tandjaoui-Lambiotte 8 collaborations
Emmanuelle Jouanguy 8 collaborations
Jérémie Rosain 8 collaborations
Quentin Philippot 8 collaborations
Aina Aguiló-Cucurull 7 collaborations
Yu Zhang 7 collaborations
Adrian Gervais 7 collaborations
Lucy Bizien 7 collaborations
Antonio Condino-Neto 7 collaborations
Filomeen Haerynck 7 collaborations
Lennart Hammarström 7 collaborations
Qiang Pan-Hammarström 7 collaborations
Isabelle Meyts 7 collaborations
Helen C Su 7 collaborations
Tom Le Voyer 7 collaborations
Laura Planas-Serra 6 collaborations
Alessandro Aiuti 6 collaborations
Andrés Augusto Arias 6 collaborations
Giorgio Casari 6 collaborations
Carolina Prando 6 collaborations
Diederik van de Beek 6 collaborations
Jacques Fellay 6 collaborations
Richard P Lifton 6 collaborations
Trine H Mogensen 6 collaborations
Guy Gorochov 6 collaborations
Luigi D Notarangelo 6 collaborations
Vivien Béziat 6 collaborations
Peng Zhang 5 collaborations
Jeremy Manry 5 collaborations
Hassan Abolhassani 5 collaborations
Rabih Halwani 5 collaborations
Javier Martinez-Picado 5 collaborations
Rebeca Pérez de Diego 5 collaborations
Luis Felipe Reyes 5 collaborations
Agatha Schlüter 5 collaborations
Jesus Troya 5 collaborations
Mayana Zatz 5 collaborations
Hagit Baris-Feldman 5 collaborations
Yu-Lung Lau 5 collaborations
Ricardo Pujol-Borrell 5 collaborations
Andrea Biondi 5 collaborations
Paolo Bonfanti 5 collaborations
Lazaro Lorenzo 5 collaborations
Lucie Roussel 5 collaborations
Kaya Bilguvar 5 collaborations
Xavier Solanich 5 collaborations
Carlos Rodríguez-Gallego 5 collaborations
Romina Dieli-Crimi 4 collaborations
Laia Alsina 4 collaborations
Laura Batlle-Masó 4 collaborations
Neus Castells 4 collaborations
Yoann Seeleuthner 4 collaborations
Alexandre Bolze 4 collaborations
Takaki Asano 4 collaborations
Luis M Allende 4 collaborations
Peter K Gregersen 4 collaborations
Davood Mansouri 4 collaborations
Giuseppe Novelli 4 collaborations
Carlos Rodriguez-Gallego 4 collaborations
Mohammad Shahrooei 4 collaborations
Clifton L Dalgard 4 collaborations
James R Heath 4 collaborations
Robert Nussbaum 4 collaborations
Daniel Álvarez-Sierra 4 collaborations
Eleftherios Michailidis 4 collaborations
Hans-Heinrich Hoffmann 4 collaborations
Rui Yang 4 collaborations
Mélanie Migaud 4 collaborations
Karita Särekannu 4 collaborations
Sophie Trouillet-Assant 4 collaborations
Alexandre Belot 4 collaborations
Tomohiro Morio 4 collaborations
Junko Tanaka 4 collaborations
David Dalmau 4 collaborations
Luisa Imberti 4 collaborations
Marcela Moncada-Vélez 4 collaborations
Soraya Boucherit 4 collaborations
Sotirija Duvlis 4 collaborations
Jalila El Bakkouri 4 collaborations
Elena Dominguez-Garrido 4 collaborations
Sabina Sahanic 4 collaborations
Ivan Tancevski 4 collaborations
Yoko Nukui 4 collaborations
Miyuki Tsumura 4 collaborations
Darragh Duffy 4 collaborations
Karim Dorgham 4 collaborations
Raúl Rigo-Bonnin 4 collaborations
Francisco Morandeira 4 collaborations
Shrikant Mane 4 collaborations
Pärt Peterson 4 collaborations
Kai Kisand 4 collaborations
Satoshi Okada 4 collaborations
Ana Argudo-Ramírez 4 collaborations
András N Spaan 4 collaborations
Andrew L Snow 4 collaborations
Donald C Vinh 4 collaborations
Marina García-Prat 4 collaborations
Pere Soler Palacín 3 collaborations
Laura Viñas-Giménez 3 collaborations
María Antolín 3 collaborations
Mónica Martinez-Gallo 3 collaborations
Janire Perurena-Prieto 3 collaborations
Daniela Matuozzo 3 collaborations
Estelle Talouarn 3 collaborations
Federica Barzaghi 3 collaborations
Ilad Alavi Darazam 3 collaborations
Gokhan Aytekin 3 collaborations
Peter Bergman 3 collaborations
Simone Bondesan 3 collaborations
Yenan T Bryceson 3 collaborations
Ingrid G Bustos 3 collaborations
Oscar Cabrera-Marante 3 collaborations
Paola Carrera 3 collaborations
Khalil Chaïbi 3 collaborations
Laura E Covill 3 collaborations
Ottavia M Delmonte 3 collaborations
Carlos Flores 3 collaborations
Marta Gut 3 collaborations
Nevin Hatipoğlu 3 collaborations
Jose Luis Franco 3 collaborations
Ozge Metin Akcan 3 collaborations
Isabelle Migeotte 3 collaborations
Pierre-Emmanuel Morange 3 collaborations
Guillaume Morelle 3 collaborations
Antonio Novelli 3 collaborations
Figen Palabiyik 3 collaborations
Daniel E Pleguezuelo 3 collaborations
Julian Rojas 3 collaborations
Patrizia Rovere-Querini 3 collaborations
Imran Tipu 3 collaborations
Cristina Tresoldi 3 collaborations
Saleh Zaid Al-Muhsen 3 collaborations
Tom Maniatis 3 collaborations
Amanda Kahn-Kirby 3 collaborations
Sarah Tubiana 3 collaborations
Ana Marín-Sánchez 3 collaborations
Shohei Eto 3 collaborations
Liis Haljasmägi 3 collaborations
Julia Maslovskaja 3 collaborations
Nicolas de Prost 3 collaborations
Charles-Edouard Luyt 3 collaborations
Blanca Amador-Borrero 3 collaborations
Alexandre Gaudet 3 collaborations
Julien Poissy 3 collaborations
Pascal Morel 3 collaborations
Pascale Richard 3 collaborations
Fabrice Cognasse 3 collaborations
Kahina Saker 3 collaborations
Pierre Garçon 3 collaborations
Jean-Christophe Lagier 3 collaborations
Stéphanie Gentile 3 collaborations
Elana Shaw 3 collaborations
Pierre-Louis Tharaux 3 collaborations
Damien Sene 3 collaborations
Alain Stepanian 3 collaborations
Vasiliki Triantafyllia 3 collaborations
Arnaud Fekkar 3 collaborations
Juan-Manuel Anaya 3 collaborations
Jordi Solé-Violán 3 collaborations
Riccardo Castagnoli 3 collaborations
Dany Anglicheau 3 collaborations
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