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Frédéric Rieux-Laucat
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Journal Articles

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans

In Special Collection:
Genes and Immunity
Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View articletitled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
Open the PDF for Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans in another window
Includes: Supplementary data
Journal Articles

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

In Special Collection:
Genes and Immunity
Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e920240699.
https://doi.org/10.1084/jem.20240699
Published: 22 November 2024
View articletitled, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Open the PDF for Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C) in another window
Includes: Supplementary data
Journal Articles

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

In Special Collection:
Autoimmunity 2024
Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh-Chi Bui, Jérémy Berthelet, Audrey Laurent, Etienne Crickx, Marianna Parlato, Marie-Claude Stolzenberg, Felipe Suarez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau-Frachon, Christine Pietrement, Marion Malphettes, Antoine Froissart, Christine Bole-Feysot, Nicolas Cagnard, Fernando Rodrigues Lima, Thierry Walzer, Frédéric Rieux-Laucat, Alexandre Belot, Anne-Laure Mathieu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232337.
https://doi.org/10.1084/jem.20232337
Published: 19 July 2024
View articletitled, Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus
Open the PDF for Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus in another window
Includes: Supplementary data
Journal Articles

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

In Special Collection:
Innate Immune Signaling: From Host Defense to Disease Pathogenesis , 2024: The Year in Experimental Medicine
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Allatif, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Sophie Georgin-Lavialle, Bénédicte F. Py
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (5): e20231200.
https://doi.org/10.1084/jem.20231200
Published: 26 March 2024
View articletitled, Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation
Open the PDF for Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation in another window
Includes: Supplementary data
Journal Articles

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Silvia Cerboni, Nadia Jeremiah, Matteo Gentili, Ulf Gehrmann, Cécile Conrad, Marie-Claude Stolzenberg, Capucine Picard, Bénédicte Neven, Alain Fischer, Sébastian Amigorena, Frédéric Rieux-Laucat, Nicolas Manel
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (6): 1769–1785.
https://doi.org/10.1084/jem.20161674
Published: 08 May 2017
View articletitled, Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes
Open the PDF for Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes in another window
Includes: Supplementary data
Journal Articles

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

In Special Collection:
Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet, David Hunt, Gillian I. Rice, Scott Werneke, Sarah L. McGlasson, Marie-Alexandra Alyanakian, Brigitte Bader-Meunier, Christine Barnerias, Nathalia Bellon, Alexandre Belot, Christine Bodemer, Tracy A. Briggs, Isabelle Desguerre, Marie-Louise Frémond, Marie Hully, Arn M.J.M. van den Maagdenberg, Isabelle Melki, Isabelle Meyts, Lucile Musset, Nadine Pelzer, Pierre Quartier, Gisela M. Terwindt, Joanna Wardlaw, Stewart Wiseman, Frédéric Rieux-Laucat, Yoann Rose, Bénédicte Neven, Christina Hertel, Adrian Hayday, Matthew L. Albert, Flore Rozenberg, Yanick J. Crow, Darragh Duffy
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (5): 1547–1555.
https://doi.org/10.1084/jem.20161451
Published: 18 April 2017
View articletitled, Detection of interferon alpha protein reveals differential levels and cellular sources in disease
Open the PDF for Detection of interferon alpha protein reveals differential levels and cellular sources in disease in another window
Includes: Supplementary data