Publications by authors named "Roger Colobran"

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Pharmacokinetic Characterization of Rituximab in Patients with Glomerular Diseases.
María Larrosa-García, Irene Agraz Pamplona, María Teresa Sanz Martínez, Roxana Paola Bury Macías, Mónica Martínez Gallo, Roger Colobran

Ther Drug Monit· December 2025

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Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.
Tristan J van der Linden, Rob J W Arts, Catherine M Biggs, Laleh Habibi, Laura Batlle-Masó, Roger Colobran

J Hum Immun· November 2025

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Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.
Laura Batlle-Masó, Joan Padrosa Pulido, Anna Esteve-Codina, Janire Perurena-Prieto, Clara Franco-Jarava, Roger Colobran

NPJ Genom Med· November 2025

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The immune response to SARS-CoV-2 in COVID-19 as a recall response susceptible to immune imprinting: A prospective cohort study.
Daniel Alvarez-Sierra, Mónica Martínez-Gallo, Adrián Sánchez-Montalvá, Marco Fernández-Sanmartín, Roger Colobran

Clin Immunol· March 2025

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or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.
Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Roger Colobran

Front Immunol· February 2025

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Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.
Janire Perurena-Prieto, María Teresa Sanz-Martínez, Laura Viñas-Giménez, Claudia Codina-Clavaguera, Laura Triginer, Roger Colobran

J Autoimmun· December 2024

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Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.
Blanca Urban, Laura Batlle-Masó, Janire Perurena-Prieto, Marina Garcia-Prat, Alba Parra-Martínez, Roger Colobran

J Clin Immunol· November 2024

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Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis.
Janire Perurena-Prieto, Laura Viñas-Giménez, María Teresa Sanz-Martínez, Albert Selva-O'Callaghan, Eduardo Luis Callejas-Moraga, Roger Colobran

Rheumatology (Oxford)· August 2024

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Prognostic value of anti-IFI16 autoantibodies in pulmonary arterial hypertension and mortality in patients with systemic sclerosis.
Janire Perurena-Prieto, Eduardo L Callejas-Moraga, María T Sanz-Martínez, Roger Colobran, Alfredo Guillén-Del-Castillo

Med Clin (Barc)· April 2024

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OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.
Laura Batlle-Masó, Maria Antolin, Joana Marques-Soares, Romina Dieli-Crimi, Roger Colobran

J Clin Immunol· April 2024

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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Roger Colobran

J Exp Med· February 2024

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Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Roger Colobran

Genome Med· January 2024

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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Roger Colobran

J Clin Immunol· January 2024

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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
Laura Batlle-Masó, Jacques G Rivière, Clara Franco-Jarava, Andrea Martín-Nalda, Marina Garcia-Prat, Roger Colobran

J Clin Immunol· November 2023

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Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
José María García-Aznar, Emilia Maneiro Pampín, Maite García Ramos, María José Acuña Pérez, Nerea Paz Gandiaga, Roger Colobran

Front Immunol· October 2023

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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.
Daniel Álvarez-Sierra, Jorge Rodríguez-Grande, Aroa Gómez-Brey, Irene Bello, Enric Caubet, Roger Colobran

J Autoimmun· September 2023

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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Laura Batlle-Masó, Marina Garcia-Prat, Alba Parra-Martínez, Clara Franco-Jarava, Aina Aguiló-Cucurull, Roger Colobran

Front Immunol· April 2023

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Genome-wide detection of human variants that disrupt intronic branchpoints.
Peng Zhang, Quentin Philippot, Weicheng Ren, Wei-Te Lei, Juan Li, Roger Colobran

Proc Natl Acad Sci U S A· November 2022

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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jeremy Manry, Yoann Seeleuthner, Roger Colobran

medRxiv· October 2022

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Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.
Veronica Davalos, Carlos A García-Prieto, Gerardo Ferrer, Sergio Aguilera-Albesa, Juan Valencia-Ramos, Roger Colobran

EClinicalMedicine· August 2022

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Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
Clara Franco-Jarava, Irene Valenzuela, Jacques G Riviere, Marina Garcia-Prat, Mónica Martínez-Gallo, Roger Colobran

Front Immunol· July 2022

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The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Roger Colobran

Proc Natl Acad Sci U S A· May 2022

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Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Moisés Labrador-Horrillo, Clara Franco-Jarava, Marina Garcia-Prat, Alba Parra-Martínez, María Antolín, Roger Colobran

Front Immunol· April 2022

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The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.
Jeremy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Roger Colobran

Res Sq· January 2022

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