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Frédéric Rieux-Laucat

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Presentation

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.

Research domains

Life Sciences [q-bio] Human genetics Immunology Adaptive immunology

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Publications

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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
Journal of Experimental Medicine, 2024, 221 (5), pp.e20231200. ⟨10.1084/jem.20231200⟩
Journal articles hal-04536945v1

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
Cell Death and Disease, 2024, 15 (5), pp.315. ⟨10.1038/s41419-024-06679-6⟩
Journal articles hal-04587409v1
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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⟩
Journal articles hal-04518054v1

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
Nature Communications, 2023, 14 (1), pp.3728. ⟨10.1038/s41467-023-39295-7⟩
Journal articles hal-04246988v1
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A20 haploinsufficiency: A systematic review of 177 cases.

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

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
Nature Communications, 2023, 14 (1), pp.3728. ⟨10.1038/s41467-023-39295-7⟩
Journal articles hal-04288092v1
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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard , Laure Delage , Tania Gajardo , Alexandre Kauskot , Maxime Batignes
Blood, 2023
Journal articles hal-04246983v1

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard , Laure Delage , Tania Gajardo , Alexandre Kauskot , Maxime Batignes
Journal articles hal-04455529v1
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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
Cell Reports, 2023, 42 (4), pp.112378. ⟨10.1016/j.celrep.2023.112378⟩
Journal articles hal-04233269v1

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

Tala Shahin , Daniel Mayr , Mohamed Shoeb , Hye Sun Kuehn , Birgit Hoeger
Blood Advances, 2022, 6 (7), pp.2444-2451. ⟨10.1182/bloodadvances.2021006367⟩
Journal articles hal-03864209v1
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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
Science Immunology, 2022, 7 (69), ⟨10.1126/sciimmunol.abi7160⟩
Journal articles hal-03864168v1
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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
Haematologica, 2022, 107 (2), pp.457-466. ⟨10.3324/haematol.2020.271106⟩
Journal articles hal-03784076v1
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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
Science Advances , 2021, 7 (34), pp.eabg4081. ⟨10.1126/sciadv.abg4081⟩
Journal articles 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. Chocron
British Journal of Dermatology, 2021, 185 (6), pp.1176-1185. ⟨10.1111/bjd.20707⟩
Journal articles hal-03892796v1
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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
Nature Immunology, 2021, ⟨10.1038/s41590-021-01028-7⟩
Journal articles pasteur-03384279v1
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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
Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Journal articles 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 Nowak
Journal of Crohn's and Colitis, 2021, 15 (3), pp.517-518. ⟨10.1093/ecco-jcc/jjaa164⟩
Journal articles hal-03783962v1

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Jérôme Hadjadj , Carla Noemi Castro , Maud Tusseau , Marie-Claude Stolzenberg , Fabienne Mazerolles
Nature Communications, 2020, 11 (1), pp.5341. ⟨10.1038/s41467-020-18925-4⟩
Journal articles hal-04628578v1

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Jérôme Hadjadj , Carla Noemi Castro , Maud Tusseau , Marie-Claude Stolzenberg , Fabienne Mazerolles
Nature Communications, 2020, 11 (1), pp.5341. ⟨10.1038/s41467-020-18925-4⟩
Journal articles hal-04246989v1

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Paul Bastard , Lindsey Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann
Science, 2020, 370 (6515), ⟨10.1126/science.abd4585⟩
Journal articles hal-04495682v1
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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
Blood, 2019, 134 (1), pp.9-21. ⟨10.1182/blood-2018-11-887141⟩
Journal articles inserm-02439240v1
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Monogenic lupus: Dissecting heterogeneity

Ommar Omarjee , Cécile Picard , Cécile Frachette , Marion Moreews , Frederic Rieux-Laucat
Autoimmunity Reviews, 2019, 18 (10), ⟨10.1016/j.autrev.2019.102361⟩
Journal articles hal-03465917v1
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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
Journal of Crohn's and Colitis, 2018, 12 (9), pp.1104-1112. ⟨10.1093/ecco-jcc/jjy068⟩
Journal articles hal-02320500v2
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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
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
Journal articles pasteur-01768950v1

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Anne Ehl , Ulrich Pannicke , Stefanie-Yvonne Zimmermann , R. Lorenz , Benedicte Neven
Blood, 2015, 126 (16), pp.1967-9
Journal articles hal-01478138v1
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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
Frontiers in Pediatrics, 2015, 3, ⟨10.3389/fped.2015.00079⟩
Journal articles hal-02413085v1

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

Nina Lanzarotti , Julie Bruneau , Amélie Trinquand , Marie-Claude Stolzenberg , Bénédicte Neven
Blood, 2014, 123 (12), pp.1960-1963. ⟨10.1182/blood-2014-01-548958⟩
Journal articles 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 Daussy
Journal of Allergy and Clinical Immunology, 2013, 131 (2), pp.486-490. ⟨10.1016/j.jaci.2012.06.011⟩
Journal articles hal-04457106v1

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
Journal of Clinical Investigation, 2011, 121 (1), pp.106-112. ⟨10.1172/JCI43752⟩
Journal articles hal-04457090v1

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

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

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
Clinical Immunology, 2010, 135 (1), pp.26-32. ⟨10.1016/j.clim.2009.12.009⟩
Journal articles 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 Schaffner
Blood, 2009, 113 (13), pp.3027-3030. ⟨10.1182/blood-2008-09-179630⟩
Journal articles 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 Roquelaure
Blood, 2007, 110 (13), pp.4285-4292. ⟨10.1182/blood-2007-05-088286⟩
Journal articles hal-04457061v1

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

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

Autoimmune Lymphoproliferative Syndrome with Somatic Fas Mutations