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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Elodie Bal , Emmanuel Laplantine , Yamina Hamel , Virginie Dubosclard , Bertrand Boisson , et al.
Journal of Allergy and Clinical Immunology, 2017, 17 (4), ⟨10.1016/j.jaci.2016.11.056⟩
Journal articles hal-01560363v1

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Vivien Beziat , Juan Li , Jian-Xin Lin , Cindy Ma , Peng Li , et al.
Science Immunology, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Journal articles hal-02392068v1

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

Evangelos Andreakos , Laurent Abel , Donald Vinh , Elżbieta Kaja , Beth Drolet , et al.
Nature Immunology, 2022, 23 (2), pp.159-164. ⟨10.1038/s41590-021-01030-z⟩
Journal articles hal-03558195v1
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Franck Rapaport , Bertrand Boisson , Anne Gregor , Vivien Béziat , Stéphanie Boisson-Dupuis , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Journal articles hal-03372676v1

Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Stéphanie Boisson-Dupuis , Noe Ramirez-Alejo , Zhi Li , Etienne Patin , Geetha Rao , et al.
Science Immunology, 2018, 3 (30), pp.eaau8714. ⟨10.1126/sciimmunol.aau8714⟩
Journal articles pasteur-02070591v1
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TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO-IKK supramolecular structures.

Nadine Tarantino , Jean-Yves Tinevez , Elizabeth Faris Crowell , Bertrand Boisson , Ricardo Henriques , et al.
Journal of Cell Biology, 2014, 204 (2), pp.231-45. ⟨10.1083/jcb.201307172⟩
Journal articles pasteur-01539965v1

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson , Emmanuel Laplantine , Carolina Prando , Silvia Giliani , Elisabeth Israelsson , et al.
Nature Immunology, 2012, 13 (12), pp.1178-1186. ⟨10.1038/ni.2457⟩
Journal articles pasteur-03277102v1
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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Bertrand Boisson , Emmanuel Laplantine , Kerry Dobbs , Aurélie Cobat , Nadine Tarantino , et al.
Journal of Experimental Medicine, 2015, ⟨10.1084/jem.20141130⟩
Journal articles pasteur-01158038v1

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

Paul Bastard , Jeremy Manry , Jie Chen , Jérémie Rosain , Yoann Seeleuthner , et al.
Journal of Clinical Investigation, 2021, 131 (1), ⟨10.1172/JCI139980⟩
Journal articles hal-03552934v1

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Xianqin Zhang , Bo Bogunovic , Béatrice Payelle-Brogard , Véronique François-Newton , Scott Speer , et al.
Nature, 2015, 517 (7532), pp.89-93. ⟨10.1038/nature13801⟩
Journal articles pasteur-02070691v1

Host Cell Traversal Is Important for Progression of the Malaria Parasite through the Dermis to the Liver

Rogerio Amino , Donatella Giovannini , Sabine Thiberge , Pascale Gueirard , Bertrand Boisson , et al.
Cell Host and Microbe, 2008, 3 (2), pp.88-96. ⟨10.1016/j.chom.2007.12.007⟩
Journal articles pasteur-02425492v1
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Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

Aurélien Sokal , Paul Bastard , Pascal Chappert , Giovanna Barba-Spaeth , Slim Fourati , et al.
Journal of Experimental Medicine, 2023, 220 (1), pp.e20220258. ⟨10.1084/jem.20220258⟩
Journal articles pasteur-03847416v1
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Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel Lee , Jérémie Le Pen , Ahmad Yatim , Beihua Dong , Yann Aquino , et al.
Science, 2023, 379 (6632), pp.eabo3627. ⟨10.1126/science.abo3627⟩
Journal articles hal-04089777v1
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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 , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (21), pp.349-363. ⟨10.1073/pnas.2200413119⟩
Journal articles hal-03856619v2
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Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Paul Bastard , Adrian Gervais , Tom Le Voyer , Jeremie Rosain , Quentin Philippot , et al.
Science Immunology, 2021, 6 (62), pp.eabl4340. ⟨10.1126/sciimmunol.abl4340⟩
Journal articles hal-03358792v1
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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Mathieu P Rodero , Takaki Asano , Bertrand Boisson , Fanny Onodi , Daniela Matuozzo , et al.
Science Immunology, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4348⟩
Journal articles hal-03367639v1
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang , Paul Bastard , Zhiyong Liu , Jérémie Le Pen , Marcela Moncada-Velez , et al.
Science, 2020, 370 (6515), pp.eabd4570. ⟨10.1126/science.abd4570⟩
Journal articles hal-02950982v1