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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 monocyte/dendritic cell molecular signature of SARS-CoV2-related multisystem inflammatory syndrome in children (MIS-C) with severe myocarditis
Camille de Cevins
,
Marine Luka
,
Nikaïa Smith
,
Sonia Meynier
,
Aude Magérus
,
et al.
2021
Preprints, Working Papers, ...
pasteur-03244400v1
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Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection
Fanny Lanternier
,
Elisa Barbati
,
Ulrich Meinzer
,
Luyan Liu
,
Vincent Pedergnana
,
et al.
Journal articles
hal-02634252v1
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Single-Cell and Bulk RNA-Sequencing Reveal Differences in Monocyte Susceptibility to Influenza A Virus Infection Between Africans and Europeans
Mary B O’neill
,
Hélène Quach
,
Julien Pothlichet
,
Yann Aquino
,
Aurélie Bisiaux
,
et al.
Journal articles
hal-03499159v1
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Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
Fanny Lanternier
,
Seyed Alireza Mahdaviani
,
Elisa Barbati
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Hélène Chaussade
,
Yatrika Koumar
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et al.
Journal articles
hal-01936359v1
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Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
Paul Verdu
,
Luis Barreiro
,
Etienne Patin
,
Antoine Gessain
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Olivier Cassar
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et al.
Journal articles
hal-02271444v1
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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
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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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A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis
Camille de Cevins
,
Marine Luka
,
Nikaïa Smith
,
Sonia Meynier
,
Aude Magérus
,
et al.
Journal articles
hal-03590894v1
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TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons
Daxing Gao
,
Michael J. Ciancanelli
,
Peng Zhang
,
Oliver Harschnitz
,
Vincent Bondet
,
et al.
Journal articles
pasteur-03236241v1
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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion
Carolyn Jackson
,
Alain Lefèvre-Utile
,
Anne Guimier
,
Valérie Malan
,
Julie Bruneau
,
et al.
Journal articles
pasteur-03208057v1
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A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome
Bahia Bekhouche
,
Aurore Tourville
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Yamini Ravichandran
,
Rachida Tacine
,
Laurence Abrami
,
et al.
Journal articles
pasteur-02900753v1
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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
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et al.
Journal articles
pasteur-02070591v1
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Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.
Ai Ing Li
,
Yan Li
,
Silvia Lopez-Lastra
,
Ralph Stadhouders
,
Franziska Paul
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et al.
Journal articles
pasteur-01501939v1
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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
Minji Byun
,
Cindy S. Ma
,
Arzu Akçay
,
Vincent Pedergnana
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Umaimainthan Palendira
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et al.
Journal articles
pasteur-01370948v1
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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
Xiao-Fei Kong
,
Lisa Worley
,
Darawan Rinchai
,
Vincent Bondet
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Puthen Veettil Jithesh
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et al.
Journal articles
pasteur-02900826v1
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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Ariane Chapgier
,
Stéphanie Boisson-Dupuis
,
Emmanuelle Jouanguy
,
Guillaume Vogt
,
Jacqueline Feinberg
,
et al.
Journal articles
hal-00164335v1
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Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
Paul Bastard
,
Jeremy Manry
,
Jie Chen
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Jérémie Rosain
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Yoann Seeleuthner
,
et al.
Journal articles
hal-03552934v1
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IRF4 haploinsufficiency in a family with Whipple's disease
Antoine Guerin
,
Gaspard Kerner
,
Nico Marr
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Janet G. Markle
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Florence Fenollar
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et al.
Journal articles
hal-01789213v1
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A partial form of inherited human USP18 deficiency underlies infection and inflammation
Marta Martin-Fernandez
,
Sofija Buta
,
Tom Le Voyer
,
Zhi Li
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Lasse Toftdal Dynesen
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et al.
Journal articles
pasteur-03684590v1
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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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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis
Fabien Lafaille
,
Oliver Harschnitz
,
Yoon Seung Lee
,
Peng Zhang
,
Mary Hasek
,
et al.
Journal articles
pasteur-02549798v1
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Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
Jérémie Rosain
,
Anna-Lena Neehus
,
Jérémy Manry
,
Rui Yang
,
Jérémie Le Pen
,
et al.
Journal articles
pasteur-04130575v1
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Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes
Matthieu Deschamps
,
Guillaume Laval
,
Maud Fagny
,
Yuval Itan
,
Laurent Abel
,
et al.
Journal articles
hal-03642313v1
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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
Jean-Pierre de Villartay
,
Annick Lim
,
Hamoud Al-Mousa
,
Sophie Dupont
,
Julie Déchanet-Merville
,
et al.
Journal articles
hal-00020065v1
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Epithelial barrier dysfunction in desmoglein-1 deficiency
Laura Polivka
,
Smaïl Hadj-Rabia
,
Elodie Bal
,
Stéphanie Leclerc-Mercier
,
Marine Madrange
,
et al.
Journal articles
hal-02052255v1
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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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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria
Rui Yang
,
Federico Mele
,
Lisa Worley
,
David Langlais
,
Jérémie Rosain
,
et al.
Journal articles
pasteur-03260339v1
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Human genetic and immunological determinants of critical COVID-19 pneumonia
Qian Zhang
,
Paul Bastard
,
Adem Karbuz
,
Adrian Gervais
,
Ahmad Abou Tayoun
,
et al.
Journal articles
hal-04074068v1
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SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Vanessa Sancho-Shimizu
,
Petter Brodin
,
Aurélie Cobat
,
Catherine Biggs
,
Julie Toubiana
,
et al.
Journal articles
hal-03549287v1
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