Publications by authors named "Mathieu Fusaro"

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Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.
Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro

J Hum Immun· September 2025

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Common Toll-like receptor 7 variants define disease risk and phenotypes in juvenile-onset systemic lupus erythematosus.
Yves Renaudineau, Francesca Sposito, Valentina Natoli, Amandine Charras, Jenny Hawkes, Mathieu Fusaro

J Autoimmun· July 2025

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Mechanisms underlying skin inflammation of DOCK8 deficiency.
Mathieu Fusaro, Loïc Dupré

J Allergy Clin Immunol· July 2024

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Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.
Yves Renaudineau, Amandine Charras, Valentina Natoli, Mathieu Fusaro, Eve M D Smith

Clin Immunol· May 2024

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A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.
Mathieu Fusaro, Cyrille Coustal, Laura Barnabei, Quentin Riller, Marion Heller

Clin Immunol· April 2024

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Successful treatment of JAK1-associated inflammatory disease.
Antoine Fayand, Véronique Hentgen, Céline Posseme, Carole Lacout, Capucine Picard, Mathieu Fusaro

J Allergy Clin Immunol· October 2023

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A New Patient with p40 Deficiency and Chronic Immune Thrombocytopenia.
Anna-Lena Neehus, Mathieu Fusaro, , Romain Lévy, Jacinta Bustamante

J Clin Immunol· August 2023

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Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
Quentin Riller, Jacques Fourgeaud, Julie Bruneau, Suk See De Ravin, Grace Smith, Mathieu Fusaro

J Allergy Clin Immunol· June 2023

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NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Mathieu Fusaro

Nat Commun· June 2023

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Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy.
Fabienne Charbit-Henrion, Manon Haas, Stanislas Chaussade, Christophe Cellier, Nadine Cerf-Bensussan, Mathieu Fusaro

Clin Gastroenterol Hepatol· May 2023

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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Mathieu Fusaro

J Exp Med· February 2023

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Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
Vincent Allain, Virginie Grandin, Véronique Meignin, Rémi Bertinchamp, David Boutboul, Mathieu Fusaro

J Clin Immunol· January 2023

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Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EBV+ smooth muscle tumors.
Benjamin Fournier, Akihiro Hoshino, Julie Bruneau, Camille Bachelet, Mathieu Fusaro

J Exp Med· July 2022

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Altered Basal Lipid Metabolism Underlies the Functional Impairment of Naive CD8 T Cells in Elderly Humans.
Francesco Nicoli, Mariela P Cabral-Piccin, Laura Papagno, Eleonora Gallerani, Mathieu Fusaro

J Immunol· February 2022

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Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies.
Anton Kamnev, Claire Lacouture, Mathieu Fusaro, Loïc Dupré

Front Immunol· January 2022

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A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult.
Thibault Comont, Emmanuel Treiner, Jean-Thomas Giraud, Mathieu Fusaro, Capucine Picard

J Clin Immunol· November 2021

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NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.
Juliette Bardet, Noémie Laverdure, Mathieu Fusaro, Capucine Picard, Lorna Garnier

J Clin Med· September 2021

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A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings.
Steve Genebrier, Mathieu Fusaro, Nathalie Lambert, Sylvie Roullaud, Frédéric Millot

J Clin Immunol· August 2021

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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Mathieu Fusaro, Aline Vincent, Martin Castelle, Jérémie Rosain, Benjamin Fournier

J Clin Immunol· July 2021

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EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.
Coline Bret Puvilland, Bertrand Boisson, Mathieu Fusaro, Jacinta Bustamante, Yves Bertrand

J Clin Immunol· July 2021

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Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation.
Eytan Sarfati, Jérome Hadjadj, Mathieu Fusaro, Roman Klifa, Marion Grimaud

J Clin Immunol· May 2021

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Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
Guillaume Taieb, Elsa Kaphan, Claire Duflos, Christine Lebrun-Frénay, Valérie Rigau, Mathieu Fusaro

Neurol Neuroimmunol Neuroinflamm· May 2021

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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Marie-Louise Frémond, Alice Hadchouel, Laureline Berteloot, Isabelle Melki, Violaine Bresson, Mathieu Fusaro

J Allergy Clin Immunol Pract· February 2021

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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Bethany A Pillay, Mathieu Fusaro, Paul E Gray, Aaron L Statham, Leslie Burnett

J Clin Invest· February 2021

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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Mathieu Fusaro

Nat Commun· October 2020

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