Publications by authors named "Bertrand Boisson"

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Re-evaluation of the contribution of variants to antibody deficiency.
Hassan Abolhassani, Andres Caballero-Oteyza, Mingyu Yang, Michele Proietti, Samaneh Delavari, Bertrand Boisson

J Hum Immun· November 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, Bertrand Boisson

J Hum Immun· November 2025

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Expanding the utility of variant effect predictions with phenotype-specific models.
David Stein, Meltem Ece Kars, Baptiste Milisavljevic, Matthew Mort, Peter D Stenson, Bertrand Boisson

Nat Commun· November 2025

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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Ainsley V C Knox, Lauren Y Cominsky, Di Sun, Emylette Cruz Cabrera, Brian E Nolan, Bertrand Boisson

Blood· May 2025

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Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.
András N Spaan, Bertrand Boisson, Seth L Masters

J Exp Med· May 2025

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A novel heterozygous missense variant in a CADINS patient.
Randa S AlYafie, Mehdi Adeli, Dinesh Velayutham, Salim Bougarn, Manar Ata, Bertrand Boisson

J Allergy Clin Immunol Glob· May 2025

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Role of clonal inflammatory microglia in histiocytosis-associated neurodegeneration.
Rocio Vicario, Stamatina Fragkogianni, Maria Pokrovskii, Carina Meyer, Estibaliz Lopez-Rodrigo, Bertrand Boisson

Neuron· April 2025

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The monogenic landscape of human infectious diseases.
Stéphanie Boisson-Dupuis, Paul Bastard, Vivien Béziat, Jacinta Bustamante, Aurélie Cobat, Bertrand Boisson

J Allergy Clin Immunol· March 2025

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Two New Kindreds with Complete Factor D Deficiency.
Mathilde Puel, Kenza Rwayane, Paula Vieira Martins, Marwa Chbihi, Frédéric Rieux-Laucat, Bertrand Boisson

Eur J Immunol· March 2025

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A microglia clonal inflammatory disorder in Alzheimer's disease.
Rocio Vicario, Stamatina Fragkogianni, Leslie Weber, Tomi Lazarov, Yang Hu, Bertrand Boisson

Elife· March 2025

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Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.
Suiane Lima de Souza, Takaki Asano, Virpi Glumoff, Salla Keskitalo, Keela Pikkarainen, Bertrand Boisson

J Clin Immunol· February 2025

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Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling.
Masato Ogishi, Koji Kitaoka, Kim L Good-Jacobson, Darawan Rinchai, Baihao Zhang, Bertrand Boisson, Stéphanie Boisson-Dupuis

Immunity· December 2024

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Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.
Charlotte Cunningham-Rundles, Jean-Laurent Casanova, Bertrand Boisson

Hematology Am Soc Hematol Educ Program· December 2024

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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Bertrand Boisson

J Exp Med· November 2024

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ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.
Stephanie Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson, Maria Tello

Elife· November 2024

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IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.
Carlos A Arango-Franco, Masato Ogishi, Susanne Unger, Ottavia M Delmonte, Julio César Orrego, Bertrand Boisson, Stéphanie Boisson-Dupuis

J Clin Invest· October 2024

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Phenotypes of 126 Moroccan HIES patients according to NIH Score.
Ilham Fadil, Ibtihal Benhsaien, Jalila El Bakkouri, Leila Jeddane, Noufissa Benaajiba, Bertrand Boisson

Tunis Med· October 2024

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Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Andrés A Arias, Anna-Lena Neehus, Masato Ogishi, Vincent Meynier, Adam Krebs, Bertrand Boisson, Stéphanie Boisson-Dupuis

Nature· September 2024

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Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Tom Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, Malena Pérez Lorenzo, Tina Nguyen, Stéphanie Boisson-Dupuis, Bertrand Boisson

Proc Natl Acad Sci U S A· September 2024

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Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Kévin Muret, Vincent Le Goff, Claire Dandine-Roulland, Claire Hotz, Francette Jean-Louis, Bertrand Boisson

Int J Mol Sci· September 2024

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Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Bertrand Boisson

J Clin Immunol· August 2024

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Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Bertrand Boisson

J Clin Immunol· July 2024

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Mechanism of neurodegeneration mediated by clonal inflammatory microglia.
Rocio Vicario, Stamatina Fragkogianni, Maria Pokrovskii, Carina Mayer, Estibaliz Lopez-Rodrigo, Bertrand Boisson

bioRxiv· July 2024

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ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.
Stephanie Guillet, Tomi Lazarov, Natasha Jordan, Bertrand Boisson, Maria Tello

medRxiv· June 2024

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Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Bertrand Boisson

Nat Immunol· May 2024

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