Frédéric Rieux-Laucat

Identifiants chercheurs

IdHAL :

frederic-rieux-laucat

ORCID :

0000-0001-7858-7866

IdRef :

086828509

Présentation

I am currently holding a position of Director of Research at the National Institute of Health and Medical Research (Inserm) and Group Leader of the laboratory “Immunogenetics of Pediatric Autoimmune Diseases” at Imagine Institute, Paris, France (private Research and Healthcare Institute located in the campus of Necker Hospital Campus). I am also sitting at the Board of Trustees as a Teaching and Research Representative and at the Executive Committee. In the recent past I was a member of at the Scientific Commission of the Arc Foundation, and I was a member of the Scientific Evaluation Committee of Pasteur Institute (COMESP). From 2012 to 2016 I was the president of the Specialized Scientific committee Immunology-Microbiology at INSERM.My research team is focusing on the mechanisms involved in the control of self-tolerance in primary human immunodeficiencies associated with early-onset autoimmunity. Our works aim to provide a better understanding of the molecular and cellular bases of the mechanisms involved in lymphocytes homeostasis and self-tolerance, and should allow the identification of susceptibility factors to human auto-immune diseases.As for today I authored or co-authored 181 articles in numerous scientific journals, including, as first or last author, Science, New England Journal of Medicine, Journal of Clinical Investigation, Journal of experimental Medicine, Blood and many others. I am an Academic Editor at PLoS ONE and Associate Editor at Frontiers in immunology. I received the Jacques Oudin Price in 2006 and was awarded by Inserm with a price for Scientific Excellence (PES). I also received an iAwards from Sanofi in 2018. Lastly, I am coordinating a consortium project granted by the 4th RHU call (9.9M€), dedicated to develop AI-based tools to reduce the diagnosis wandering and to guide the clinician decision in Primary Immune deficiencies associated with auto-immunity and auto-inflammation.

Publications

Article dans une revue (45)

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation Marie Jeanpierre,Orianne Debeaupuis,Camille Brunaud,Judith Yancoski,Quentin Rilleret al. EMBO Molecular Medicine, 2025, 17 (12), pp.3275-3299. ⟨10.1038/s44321-025-00317-0⟩ Article dans une revue hal-05402799v1
Induction of the ISR by AB5 subtilase cytotoxin drives type-I IFN expression in pDCs via STING activation Daniela Barros,Beatriz H Ferreira,Paulina Garcia-Gonzalez,Francesco Carbone,Marine Lukaet al. Proceedings of the National Academy of Sciences of the United States of America, 2025, 122 (21), pp.e2421258122. ⟨10.1073/pnas.2421258122⟩ Article dans une revue hal-05348432v1
The influence of environment on bacterial co-abundance in the gut microbiomes of healthy human individuals Christophe Boetto,Violeta Basten Romero,Léo Henches,Arthur Frouin,Antoine Auvergneet al. Communications Biology, 2025, 8 (1), pp.1537. ⟨10.1038/s42003-025-08895-y⟩ Article dans une revue pasteur-05420000v1
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans Quentin Riller,Boris Sorin,Charline Courteille,Duong Ho-Nhat,Tom Le Voyeret al. Journal of Experimental Medicine, 2025, 222 (2), ⟨10.1084/jem.20240843⟩ Article dans une revue hal-05080410v1
Lymphopenia drives T cell exhaustion in immunodeficient STING gain-of-function mice Damien Freytag,Stéphane Giorgiutti,Grégoire Hopsomer,Nadège Wadier,Sabine Depauwet al. EMBO Molecular Medicine, 2025, 17 (9), pp.2438-2461. ⟨10.1038/s44321-025-00292-6⟩ Article dans une revue hal-05387716v1
Whole Exome Sequencing of Adult Patients With Evans Syndrome Reveals Pathogenic Variants Associated With Autoimmunity Étienne Crickx,Jehane Fadlallah,Morgane Cheminant,Jérémie Rosain,Jérémie Dionet al. American Journal of Hematology, 2025, American Journal of Hematology, 100 (9), pp.1700-1704. ⟨10.1002/ajh.27767⟩ Article dans une revue hal-05348643v1
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation Camille Cosson,Romane Riou,Danish Patoli,Tingting Niu,Amaury Reyet al. Journal of Experimental Medicine, 2024, 221 (5), pp.e20231200. ⟨10.1084/jem.20231200⟩ Article dans une revue hal-04536945v1
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency Charlyne Brakta,Anne-Claude Tabet,Mathilde Puel,Mathilde Pacault,Marie-Claude Stolzenberget al. Journal of Clinical Immunology, 2024, Journal of Clinical Immunology, 45 (1), pp.46. ⟨10.1007/s10875-024-01831-5⟩ Article dans une revue hal-04941904v1
Défaut d’architecture cellulaire et auto-immunité Frédéric Rieux-Laucat,Laure Delage,Charlotte Boussard Médecine/Sciences, 2024, 40 (3), pp.245-247. ⟨10.1051/medsci/2024006⟩ Article dans une revue hal-04518054v1
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome Filippo Consonni,Solange Moreno,Blanca Vinuales Colell,Marie-Claude Stolzenberg,Alicia Fernandeset al. Cell Death and Disease, 2024, 15 (5), pp.315. ⟨10.1038/s41419-024-06679-6⟩ Article dans une revue hal-04587409v1
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus Marie Jeanpierre,Jade Cognard,Maud Tusseau,Quentin Riller,Linh-Chi Buiet al. Journal of Experimental Medicine, 2024, 221 (9), pp.e20232337. ⟨10.1084/jem.20232337⟩ Article dans une revue inserm-04879769v1
A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings Mathieu Fusaro,Cyrille Coustal,Laura Barnabei,Quentin Riller,Marion Helleret al. Clinical Immunology, 2024, 261, pp.110165. ⟨10.1016/j.clim.2024.110165⟩ Article dans une revue hal-04795086v1
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients Chloé Bianchi,Henri Margot,Helder Fernandes,Marlène Pasquet,Laurence Priqueleret al. British Journal of Haematology, 2024, 204 (5), pp.1899-1907. ⟨10.1111/bjh.19387⟩ Article dans une revue hal-04957102v1
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C) Evangelos Bellos,Dilys Santillo,Pierre Vantourout,Heather R Jackson,Amedine Duretet al. Journal of Experimental Medicine, 2024, 221 (12), ⟨10.1084/jem.20240699⟩ Article dans une revue hal-04816209v1
Induction of the ISR by AB5 subtilase cytotoxin drives type-I IFN expression in pDCs via STING activation Daniela Barros,Beatriz Ferreira,Paulina Garcia-Gonzalez,Francesco Carbone,Marine Lukaet al. BioRxiv, 2024, ⟨10.1101/2024.10.07.616986⟩ Article dans une revue hal-04793368v1
A20 haploinsufficiency: A systematic review of 177 cases. Inès Elhani,Quentin Riller,Guilaine Boursier,Véronique Hentgen,Frédéric Rieux-Laucatet al. Journal of Investigative Dermatology, 2023, ⟨10.1016/j.jid.2023.12.007⟩ Article dans une revue hal-04382323v1
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency Tom Le Voyer,Audrey V Parent,Xian Liu,Axel Cederholm,Adrian Gervaiset al. Nature, 2023, 623 (7988), pp.803-813. ⟨10.1038/s41586-023-06717-x⟩ Article dans une revue hal-04815868v1
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity Charlotte Boussard,Laure Delage,Tania Gajardo,Alexandre Kauskot,Maxime Batigneset al. Blood, 2023 Article dans une revue hal-04246983v1
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells Laure Delage,Francesco Carbone,Quentin Riller,Jean-Luc Zachayus,Erwan Kerbellecet al. Nature Communications, 2023, 14 (1), pp.3728. ⟨10.1038/s41467-023-39295-7⟩ Article dans une revue hal-04288092v1
AKT activity orchestrates marginal zone B cell development in mice and humans Eva Maria Cox,Mohamed El-Behi,Stefanie Ries,Johannes F. Vogt,Vivien Kohlhaaset al. Cell Reports, 2023, 42 (4), pp.112378. ⟨10.1016/j.celrep.2023.112378⟩ Article dans une revue hal-04233269v1
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity Charlotte Boussard,Laure Delage,Tania Gajardo,Alexandre Kauskot,Maxime Batigneset al. Blood, 2023, ⟨10.1182/blood.2022018486⟩ Article dans une revue hal-04455529v1
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation Tala Shahin,Daniel Mayr,Mohamed Shoeb,Hye Sun Kuehn,Birgit Hoegeret al. Blood Advances, 2022, 6 (7), pp.2444-2451. ⟨10.1182/bloodadvances.2021006367⟩ Article dans une revue hal-03864209v1
Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden Thomas Pincez,Helder Fernandes,Thierry Leblanc,Gérard Michel,Vincent Barlogiset al. Haematologica, 2022, 107 (2), pp.457-466. ⟨10.3324/haematol.2020.271106⟩ Article dans une revue hal-03784076v1
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation Akihiro Hoshino,David Boutboul,Yuan Zhang,Hye Sun Kuehn,Jerôme Hadjadjet al. Science Immunology, 2022, 7 (69), ⟨10.1126/sciimmunol.abi7160⟩ Article dans une revue hal-03864168v1
Immune checkpoint inhibitors increase T cell immunity during SARS-CoV-2 infection Nader Yatim,Jeremy Boussier,Pauline Tetu,Nikaïa Smith,Timothée Bruelet al. Science Advances , 2021, 7 (34), pp.eabg4081. ⟨10.1126/sciadv.abg4081⟩ Article dans une revue pasteur-03334080v1
Type I interferon response and vascular alteration in chilblain‐like lesions during the COVID‐19 outbreak L. Frumholtz,J.‐d. Bouaziz,M. Battistella,J. Hadjadj,R. Chocronet al. British Journal of Dermatology, 2021, 185 (6), pp.1176-1185. ⟨10.1111/bjd.20707⟩ Article dans une revue hal-03892796v1
Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection Nikaïa Smith,Pedro Goncalves,Bruno Charbit,Ludivine Grzelak,Maxime Berettaet al. Nature Immunology, 2021, ⟨10.1038/s41590-021-01028-7⟩ Article dans une revue pasteur-03384279v1
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients Marie-Louise Frémond,Alice Hadchouel,Laureline Berteloot,Isabelle Melki,Violaine Bressonet al. Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩ Article dans une revue hal-03228789v1
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study Fabienne Charbit-Henrion,Marianna Parlato,Sylvain Hanein,Rémi Duclaux-Loras,Jan Nowaket al. Journal of Crohn's and Colitis, 2021, 15 (3), pp.517-518. ⟨10.1093/ecco-jcc/jjaa164⟩ Article dans une revue hal-03783962v1
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes Jérôme Hadjadj,Nathalie Aladjidi,Helder Fernandes,Guy Leverger,Aude Magérus-Chatinetet al. Blood, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩ Article dans une revue inserm-02439240v1
Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies Tariq Al Farsi,Stephen J. Hughes,Robert Wynn,Edmund Cheesman,Frédéric Rieux-Laucatet al. Journal of Allergy and Clinical Immunology: In Practice, 2019, 7 (7), pp.2456-2458.e4. ⟨10.1016/j.jaip.2019.03.034⟩ Article dans une revue hal-02391782v1
Monogenic lupus: Dissecting heterogeneity Ommar Omarjee,Cécile Picard,Cécile Frachette,Marion Moreews,Frederic Rieux-Laucatet al. Autoimmunity Reviews, 2019, 18 (10), ⟨10.1016/j.autrev.2019.102361⟩ Article dans une revue hal-03465917v1
Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study Fabienne Charbit-Henrion,Marianna Parlato,Sylvain Hanein,Rémi Duclaux-Loras,Jan Nowaket al. Journal of Crohn's and Colitis, 2018, 12 (9), pp.1104-1112. ⟨10.1093/ecco-jcc/jjy068⟩ Article dans une revue hal-02320500v2
Type I interferon-mediated autoinflammation due to DNase II deficiency Mathieu Rodéro,Alessandra Tesser,Eva Bartok,Gillian Rice,Erika Della Minaet al. Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩ Article dans une revue pasteur-01768950v1
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. Anne Ehl,Ulrich Pannicke,Stefanie-Yvonne Zimmermann,R. Lorenz,Benedicte Nevenet al. Blood, 2015, 126 (16), pp.1967-9 Article dans une revue hal-01478138v1
Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort Nathalie Aladjidi,Helder Fernandes,Thierry Leblanc,Amélie Vareliette,Frédéric Rieux-Laucatet al. Frontiers in Pediatrics, 2015, 3, ⟨10.3389/fped.2015.00079⟩ Article dans une revue hal-02413085v1
RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia Nina Lanzarotti,Julie Bruneau,Amélie Trinquand,Marie-Claude Stolzenberg,Bénédicte Nevenet al. Blood, 2014, 123 (12), pp.1960-1963. ⟨10.1182/blood-2014-01-548958⟩ Article dans une revue hal-04457151v1
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation Aude Magerus-Chatinet,Marie-Claude Stolzenberg,Nina Lanzarotti,Bénédicte Neven,Cécile Daussyet al. Journal of Allergy and Clinical Immunology, 2013, 131 (2), pp.486-490. ⟨10.1016/j.jaci.2012.06.011⟩ Article dans une revue hal-04457106v1
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation Bénédicte Neven,Aude Magerus-Chatinet,Benoit Florkin,Delphine Gobert,Olivier Lambotteet al. Blood, 2011, 118 (18), pp.4798-4807. ⟨10.1182/blood-2011-04-347641⟩ Article dans une revue hal-04457098v1
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation Aude Magerus-Chatinet,Bénédicte Neven,Marie-Claude Stolzenberg,Cécile Daussy,Peter Arkwrightet al. Journal of Clinical Investigation, 2011, 121 (1), pp.106-112. ⟨10.1172/JCI43752⟩ Article dans une revue hal-04457090v1
Expression of the HLA-C2-specific activating killer-cell Ig-like receptor KIR2DS1 on NK and T cells. Céline Cognet,Catherine Farnarier,Laurent Gauthier,Coralie Frassati,Pascale Andréet al. Clinical Immunology, 2010, 135 (1), pp.26-32. ⟨10.1016/j.clim.2009.12.009⟩ Article dans une revue istex hal-00502997v1
FAS-L, IL-10, and double-negative CD4−CD8− TCR α/β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function Aude Magerus-Chatinet,Marie-Claude Stolzenberg,Maria Loffredo,Bénédicte Neven,Catherine Schaffneret al. Blood, 2009, 113 (13), pp.3027-3030. ⟨10.1182/blood-2008-09-179630⟩ Article dans une revue hal-04457075v1
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes Véronique Mateo,Michael Ménager,Geneviève de Saint-Basile,Marie-Claude Stolzenberg,Bertrand Roquelaureet al. Blood, 2007, 110 (13), pp.4285-4292. ⟨10.1182/blood-2007-05-088286⟩ Article dans une revue hal-04457061v1
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency Frédéric Rieux-Laucat,Claire Hivroz,Annick Lim,Véronique Mateo,Isabelle Pellieret al. New England Journal of Medicine, 2005, 352 (3), pp.306-307. ⟨10.1056/NEJMoa053750⟩ Article dans une revue hal-04457051v1
Autoimmune Lymphoproliferative Syndrome with Somatic Fas Mutations Eliska Holzelova,Cédric Vonarbourg,Marie-Claude Stolzenberg,Peter Arkwright,Françoise Selzet al. New England Journal of Medicine, 2004, 351 (14), pp.1409-1418. ⟨10.1056/NEJMoa040036⟩ Article dans une revue hal-04457020v1

Pré-publication, Document de travail (1)

Distinct systemic and mucosal immune responses to SARS-CoV-2 Nikaïa Smith,Pedro Goncalves,Bruno Charbit,Ludivine Grzelak,Maxime Berettaet al. 2021 Pré-publication, Document de travail pasteur-03244398v1