Accès ouvert
2025
article
OpenAlex
Lucie Roussel, Stephane Bernier, Gertruda Evaristo, Anna Pérez et autres
Introduction: ) deficiency causes radiosensitive severe combined immunodeficiency (SCID), although hypomorphic cases can manifest later-onset immunodeficiency, autoimmunity, or lymphoproliferation. We report a 45-year-old man with humoral immunodeficiency, opportunistic infections, and recurrent EBV-positive diffuse large B-cell lymphoma (DLBCL). Methods: gene. Functional studies, including …
ca
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Accès ouvert
2024
article
OpenAlex
Cedric Julien, Stephane Bernier, Denis Cournoyer, Yizhe Sun et autres
• Severe infections in healthy hosts may signal an underlying immune deficiency. • Inborn errors of immunity (IEI) are monogenic defects, often germline mutations. • IEI can also arise from autoantibodies or somatic mutations. • Somatic STAT3 gain-of-function (GOF) mutations underlie autoimmunity …
ca
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2024
article
OpenAlex
Lucie Roussel, Stephane Bernier, Anna Pérez, Yizhe Sun et autres
The data that support the findings of this study are available from the corresponding author, DCV, upon reasonable request. Data S1. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any …
ca
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Accès ouvert
2023
preprint
OpenAlex
Lucie Roussel, Anne Pham‐Huy, Andrea C. Yu, Sunita Venkateswaran et autres
Abstract Autosomal recessive Tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infections. Here, we report a four-year-old female with severe respiratory viral infections, EBV-driven Burkitt-like lymphoma, and infection with the neurotropic Jamestown Canyon virus. A novel, homozygous …
ca
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