Frédéric Rieux-Laucat

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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.

Domaines de recherche

Sciences du Vivant [q-bio] Génétique humaine Immunologie Immunité adaptative

Publications

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Publications

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 Voyer et al.
Journal of Experimental Medicine, 2025, 222 (2), ⟨10.1084/jem.20240843⟩
Article dans une revue hal-05080410 v1

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 Luka et al.
Article dans une revue hal-04793368 v1
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Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

Camille Cosson , Romane Riou , Danish Patoli , Tingting Niu , Amaury Rey et al.
Journal of Experimental Medicine, 2024, 221 (5), pp.e20231200. ⟨10.1084/jem.20231200⟩
Article dans une revue hal-04536945 v1

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 Fernandes et al.
Cell Death and Disease, 2024, 15 (5), pp.315. ⟨10.1038/s41419-024-06679-6⟩
Article dans une revue hal-04587409 v1
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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-04518054 v1
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Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

Marie Jeanpierre , Jade Cognard , Maud Tusseau , Quentin Riller , Linh-Chi Bui et al.
Journal of Experimental Medicine, 2024, 221 (9), pp.e20232337. ⟨10.1084/jem.20232337⟩
Article dans une revue inserm-04879769 v1
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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 Heller et al.
Clinical Immunology, 2024, 261, pp.110165. ⟨10.1016/j.clim.2024.110165⟩
Article dans une revue hal-04795086 v1

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Chloé Bianchi , Henri Margot , Helder Fernandes , Marlène Pasquet , Laurence Priqueler et al.
British Journal of Haematology, 2024, 204 (5), pp.1899-1907. ⟨10.1111/bjh.19387⟩
Article dans une revue hal-04957102 v1
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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Evangelos Bellos , Dilys Santillo , Pierre Vantourout , Heather R Jackson , Amedine Duret et al.
Journal of Experimental Medicine, 2024, 221 (12), ⟨10.1084/jem.20240699⟩
Article dans une revue hal-04816209 v1

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Evangelos Bellos , Dilys Santillo , Pierre Vantourout , Heather Jackson , Amedine Duret et al.
Journal of Experimental Medicine, 2024, 221 (12), ⟨10.1084/jem.20240699⟩
Article dans une revue hal-04887959 v1
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A20 haploinsufficiency: A systematic review of 177 cases.

Inès Elhani , Quentin Riller , Guilaine Boursier , Véronique Hentgen , Frédéric Rieux-Laucat et al.
Journal of Investigative Dermatology, 2023, ⟨10.1016/j.jid.2023.12.007⟩
Article dans une revue hal-04382323 v1

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard , Laure Delage , Tania Gajardo , Alexandre Kauskot , Maxime Batignes et al.
Article dans une revue hal-04455529 v1
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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Tom Le Voyer , Audrey V Parent , Xian Liu , Axel Cederholm , Adrian Gervais et al.
Nature, 2023, 623 (7988), pp.803-813. ⟨10.1038/s41586-023-06717-x⟩
Article dans une revue hal-04815868 v1
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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 Kerbellec et al.
Nature Communications, 2023, 14 (1), pp.3728. ⟨10.1038/s41467-023-39295-7⟩
Article dans une revue hal-04288092 v1
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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard , Laure Delage , Tania Gajardo , Alexandre Kauskot , Maxime Batignes et al.
Blood, 2023
Article dans une revue hal-04246983 v1
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AKT activity orchestrates marginal zone B cell development in mice and humans

Eva Maria Cox , Mohamed El-Behi , Stefanie Ries , Johannes F. Vogt , Vivien Kohlhaas et al.
Cell Reports, 2023, 42 (4), pp.112378. ⟨10.1016/j.celrep.2023.112378⟩
Article dans une revue hal-04233269 v1
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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 Hadjadj et al.
Science Immunology, 2022, 7 (69), ⟨10.1126/sciimmunol.abi7160⟩
Article dans une revue hal-03864168 v1
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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 Barlogis et al.
Haematologica, 2022, 107 (2), pp.457-466. ⟨10.3324/haematol.2020.271106⟩
Article dans une revue hal-03784076 v1

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

Tala Shahin , Daniel Mayr , Mohamed Shoeb , Hye Sun Kuehn , Birgit Hoeger et al.
Blood Advances, 2022, 6 (7), pp.2444-2451. ⟨10.1182/bloodadvances.2021006367⟩
Article dans une revue hal-03864209 v1

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. Chocron et al.
British Journal of Dermatology, 2021, 185 (6), pp.1176-1185. ⟨10.1111/bjd.20707⟩
Article dans une revue hal-03892796 v1
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Immune checkpoint inhibitors increase T cell immunity during SARS-CoV-2 infection

Nader Yatim , Jeremy Boussier , Pauline Tetu , Nikaïa Smith , Timothée Bruel et al.
Science Advances , 2021, 7 (34), pp.eabg4081. ⟨10.1126/sciadv.abg4081⟩
Article dans une revue pasteur-03334080 v1
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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 Nowak et al.
Journal of Crohn's and Colitis, 2021, 15 (3), pp.517-518. ⟨10.1093/ecco-jcc/jjaa164⟩
Article dans une revue hal-03783962 v1
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Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection

Nikaïa Smith , Pedro Goncalves , Bruno Charbit , Ludivine Grzelak , Maxime Beretta et al.
Nature Immunology, 2021, ⟨10.1038/s41590-021-01028-7⟩
Article dans une revue pasteur-03384279 v1
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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Marie-Louise Frémond , Alice Hadchouel , Laureline Berteloot , Isabelle Melki , Violaine Bresson et 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-03228789 v1
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Monogenic lupus: Dissecting heterogeneity

Ommar Omarjee , Cécile Picard , Cécile Frachette , Marion Moreews , Frederic Rieux-Laucat et al.
Autoimmunity Reviews, 2019, 18 (10), ⟨10.1016/j.autrev.2019.102361⟩
Article dans une revue hal-03465917 v1
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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-Chatinet et al.
Blood, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Article dans une revue inserm-02439240 v1
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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 Nowak et al.
Journal of Crohn's and Colitis, 2018, 12 (9), pp.1104-1112. ⟨10.1093/ecco-jcc/jjy068⟩
Article dans une revue hal-02320500 v2
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Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu Rodéro , Alessandra Tesser , Eva Bartok , Gillian Rice , Erika Della Mina et al.
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Article dans une revue pasteur-01768950 v1

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Anne Ehl , Ulrich Pannicke , Stefanie-Yvonne Zimmermann , R. Lorenz , Benedicte Neven et al.
Blood, 2015, 126 (16), pp.1967-9
Article dans une revue hal-01478138 v1
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Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

Nathalie Aladjidi , Helder Fernandes , Thierry Leblanc , Amélie Vareliette , Frédéric Rieux-Laucat et al.
Frontiers in Pediatrics, 2015, 3, ⟨10.3389/fped.2015.00079⟩
Article dans une revue hal-02413085 v1

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

Nina Lanzarotti , Julie Bruneau , Amélie Trinquand , Marie-Claude Stolzenberg , Bénédicte Neven et al.
Blood, 2014, 123 (12), pp.1960-1963. ⟨10.1182/blood-2014-01-548958⟩
Article dans une revue hal-04457151 v1

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

Aude Magerus-Chatinet , Marie-Claude Stolzenberg , Nina Lanzarotti , Bénédicte Neven , Cécile Daussy et 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-04457106 v1

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 Arkwright et al.
Journal of Clinical Investigation, 2011, 121 (1), pp.106-112. ⟨10.1172/JCI43752⟩
Article dans une revue hal-04457090 v1

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Bénédicte Neven , Aude Magerus-Chatinet , Benoit Florkin , Delphine Gobert , Olivier Lambotte et al.
Blood, 2011, 118 (18), pp.4798-4807. ⟨10.1182/blood-2011-04-347641⟩
Article dans une revue hal-04457098 v1

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 André et al.
Clinical Immunology, 2010, 135 (1), pp.26-32. ⟨10.1016/j.clim.2009.12.009⟩
Article dans une revue istex hal-00502997 v1

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 Schaffner et al.
Blood, 2009, 113 (13), pp.3027-3030. ⟨10.1182/blood-2008-09-179630⟩
Article dans une revue hal-04457075 v1

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 Roquelaure et al.
Blood, 2007, 110 (13), pp.4285-4292. ⟨10.1182/blood-2007-05-088286⟩
Article dans une revue hal-04457061 v1

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency

Frédéric Rieux-Laucat , Claire Hivroz , Annick Lim , Véronique Mateo , Isabelle Pellier et al.
New England Journal of Medicine, 2005, 352 (3), pp.306-307. ⟨10.1056/NEJMoa053750⟩
Article dans une revue hal-04457051 v1

Autoimmune Lymphoproliferative Syndrome with Somatic Fas Mutations

Eliska Holzelova , Cédric Vonarbourg , Marie-Claude Stolzenberg , Peter Arkwright , Françoise Selz et al.
New England Journal of Medicine, 2004, 351 (14), pp.1409-1418. ⟨10.1056/NEJMoa040036⟩
Article dans une revue hal-04457020 v1