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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 articles
hal-01560363v1
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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.
Journal articles
hal-02392068v1
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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.
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
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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.
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 articles
pasteur-01539965v1
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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.
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 articles
pasteur-01158038v1
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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 articles
hal-03552934v1
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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.
Journal articles
pasteur-02070691v1
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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.
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 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.
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.
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.
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.
Journal articles
hal-02950982v1
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