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An in vitro diagnostic certified point of care single nucleotide test for IL28B polymorphisms

Darragh Duffy , Estelle Mottez , Shaun Ainsworth , Tan-Phuc Buivan , Aurelie Baudin , et al.
PLoS ONE, 2017, 12 (9), pp.e0183084. ⟨10.1371/journal.pone.0183084⟩
Journal articles pasteur-01609237v1

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

Trichodysplasia spinulosa polyomavirus infection occurs during early childhood with intra-familial transmission, especially from mother to child

Vincent Pedergnana , Claire Martel-Jantin , Jérôme Nicol , Valérie Leblond , Patricia Tortevoye , et al.
Journal of Investigative Dermatology, 2017, 137 (5), pp.1182-1183. ⟨10.1016/j.jid.2016.12.017⟩
Journal articles hal-01445454v1
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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

Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds.

Gürses Sahin , Ayse Palanduz , Gonul Aydogan , Olivier Cassar , A. Ulya Ertem , et al.
Pediatrics, 2010, 125 (3), pp.e704-e708. ⟨10.1542/peds.2009-2224⟩
Journal articles pasteur-00460460v1

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

Causal analysis of H1N1pdm09 influenza infection risk in a household cohort

Yohann Mansiaux , Nicolas Salez , Nathanaël Lapidus , Michel Setbon , Laurent Andreoletti , et al.
Journal of Epidemiology and Community Health, 2015, 69 (3), pp.272-277. ⟨10.1136/jech-2014-204678⟩
Journal articles hal-03118834v1

High-risk exposure without personal protective equipment and infection with SARS-CoV-2 in-hospital workers - The CoV-CONTACT cohort

Sarah Tubiana , Charles Burdet , Nadhira Houhou , Michael Thy , Pauline Manchon , et al.
Journal of Infection, 2021, 82 (5), pp.186-230. ⟨10.1016/j.jinf.2021.01.026⟩
Journal articles hal-03439333v1

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

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
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Merkel cell polyomavirus infection occurs during early childhood and is transmitted between siblings

Claire Martel-Jantin , Vincent Pedergnana , Jérôme Nicol , Valérie Leblond , David-Alexandre Tregouet , et al.
Journal of Clinical Virology, 2013, 58 (1), pp.288-291. ⟨10.1016/j.jcv.2013.06.004⟩
Journal articles hal-02645743v1

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

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

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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Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population.

Nathanael Lapidus , Xavier de Lamballerie , Nicolas Salez , Michel Setbon , Rosemary M Delabre , et al.
PLoS ONE, 2012, 8 (4), pp.e60127. ⟨10.1371/journal.pone.0060127⟩
Journal articles hal-01122215v1
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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
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard , Lindsey B. Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann , et al.
Science, 2020, 370 (6515), pp.eabd4585. ⟨10.1126/science.abd4585⟩
Journal articles pasteur-02958871v1
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COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Sheryl Ann Abdukahil , Ali Ait Hssain , Younes Ait Tamlihat , Kazali Enagnon Alidjnou , Carlos Alexandre Antunes de Brito , et al.
Infection, 2021, 49 (5), pp.889-905. ⟨10.1007/s15010-021-01599-5⟩
Journal articles hal-03273644v1
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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
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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

Strong correlations of anti-viral capsid antigen antibody levels in first-degree relatives from families with Epstein-Barr virus-related lymphomas.

Caroline Besson , Corinne Amiel , Catherine Le-Pendeven , Sabine Plancoulaine , Colette Bonnardel , et al.
Journal of Infectious Diseases, 2009, 199 (8), pp.1121-7. ⟨10.1086/597424⟩
Journal articles pasteur-00460071v1

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

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

Refined association of melanoma differentiation-associated gene 5 variants with spontaneous hepatitis C virus clearance in Egypt

Vincent Pedergnana , Mohamed Abdel-Hamid , Julien Guergnon , Ioannis Theodorou , Arnaud Fontanet , et al.
Hepatology, 2016, 63 (3), pp.1059-1061. ⟨10.1002/hep.27951⟩
Journal articles hal-03692094v1

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