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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
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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

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

Fanny Lanternier , Elisa Barbati , Ulrich Meinzer , Luyan Liu , Vincent Pedergnana , et al.
Journal of Infectious Diseases, 2015, 211 (8), pp.1241-1250. ⟨10.1093/infdis/jiu412⟩
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.
Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.768189⟩
Journal articles hal-03499159v1

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both

Fanny Lanternier , Seyed Alireza Mahdaviani , Elisa Barbati , Hélène Chaussade , Yatrika Koumar , et al.
Journal of Allergy and Clinical Immunology, 2015, 135 (6), pp.1558 - 1568.e2. ⟨10.1016/j.jaci.2014.12.1930⟩
Journal articles hal-01936359v1

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

Paul Verdu , Luis Barreiro , Etienne Patin , Antoine Gessain , Olivier Cassar , et al.
Human Molecular Genetics, 2006, 15 (17), pp.2650-2658. ⟨10.1093/hmg/ddl193⟩
Journal articles hal-02271444v1

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

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.
Med, 2021, 2 (9), pp.1072-1092.e7. ⟨10.1016/j.medj.2021.08.002⟩
Journal articles hal-03590894v1

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 of Clinical Investigation, 2021, 131 (1), pp.e134529. ⟨10.1172/JCI134529⟩
Journal articles pasteur-03236241v1

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.
American Journal of Medical Genetics Part A, 2017, 173 (7), pp.1858-1865. ⟨10.1002/ajmg.a.38275⟩
Journal articles pasteur-03208057v1

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Bahia Bekhouche , Aurore Tourville , Yamini Ravichandran , Rachida Tacine , Laurence Abrami , et al.
Journal of Allergy and Clinical Immunology, 2020, ⟨10.1016/J.JACI.2020.03.020⟩
Journal articles pasteur-02900753v1

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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Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

Ai Ing Li , Yan Li , Silvia Lopez-Lastra , Ralph Stadhouders , Franziska Paul , et al.
Cell, 2017, 168 (6), pp.1086-1100.e10. ⟨10.1016/j.cell.2017.02.021⟩
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 , Umaimainthan Palendira , et al.
Journal of Experimental Medicine, 2013, 210 (9), pp.1743 - 1759. ⟨10.1084/jem.20130592⟩
Journal articles pasteur-01370948v1

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 , Puthen Veettil Jithesh , et al.
Journal of Clinical Immunology, 2020, Online ahead of print, ⟨10.1007/s10875-020-00803-9⟩
Journal articles pasteur-02900826v1

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Ariane Chapgier , Stéphanie Boisson-Dupuis , Emmanuelle Jouanguy , Guillaume Vogt , Jacqueline Feinberg , et al.
PLoS Genetics, 2006, 2 (8), pp.e131. ⟨10.1371/journal.pgen.0020131⟩
Journal articles hal-00164335v1

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
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IRF4 haploinsufficiency in a family with Whipple's disease

Antoine Guerin , Gaspard Kerner , Nico Marr , Janet G. Markle , Florence Fenollar , et al.
eLife, 2018, 7, pp.e32340. ⟨10.7554/eLife.32340⟩
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 , Lasse Toftdal Dynesen , et al.
Journal of Experimental Medicine, 2022, 219 (4), ⟨10.1084/jem.20211273⟩
Journal articles pasteur-03684590v1

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

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.
Nature Medicine, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
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.
Cell, 2023, 186 (3), pp.621 - 645.e33. ⟨10.1016/j.cell.2022.12.038⟩
Journal articles pasteur-04130575v1

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.
American Journal of Human Genetics, 2016, 98 (1), pp.5-21. ⟨10.1016/j.ajhg.2015.11.014⟩
Journal articles hal-03642313v1

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 of Clinical Investigation, 2005, 115, pp.3291-3299. ⟨10.1172/JCI25178⟩
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 of Allergy and Clinical Immunology, 2018, 142 (2), pp.702-706.e7. ⟨10.1016/j.jaci.2018.04.007⟩
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 of Experimental Medicine, 2023, 220 (1), pp.e20220258. ⟨10.1084/jem.20220258⟩
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.
Cell, 2020, 183 (7), pp.1826-1847.e31. ⟨10.1016/j.cell.2020.10.046⟩
Journal articles pasteur-03260339v1

Human genetic and immunological determinants of critical COVID-19 pneumonia

Qian Zhang , Paul Bastard , Adem Karbuz , Adrian Gervais , Ahmad Abou Tayoun , et al.
Nature, 2022, 603 (7902), pp.587-598. ⟨10.1038/s41586-022-04447-0⟩
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 of Experimental Medicine, 2021, 218 (6), ⟨10.1084/jem.20210446⟩
Journal articles hal-03549287v1