Fréderic Rieux-Laucat

Affiliations

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France.

Publications (71)

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice.

The Journal of allergy and clinical immunology

Avec: Delphine Bouis , Peggy Kirstetter , Florent Arbogast , Delphine Lamon , Virginia Delgado , Sophie Jung , Claudine Ebel , Hugues Jacobs , Anne-Marie Knapp , Nadia Jeremiah , Alexandre Belot , Thierry Martin , Yanick J Crow , Isabelle André-Schmutz , Anne-Sophie Korganow , Frédéric Rieux-Laucat , Pauline Soulas-Sprauel

Immunogenicity of BNT162b2 vaccine against the Alpha and Delta variants in immunocompromised patients with systemic inflammatory diseases.

Annals of the rheumatic diseases

Avec: Jerome Hadjadj , Delphine Planas , Amani Ouedrani , Solene Buffier , Laure Delage , Yann Nguyen , Timothée Bruel , Marie-Claude Stolzenberg , Isabelle Staropoli , Natalia Ermak , Laure Macraigne , Caroline Morbieu , Soledad Henriquez , David Veyer , Hélène Péré , Marion Casadevall , Luc Mouthon , Frederic Rieux-Laucat , Lucienne Chatenoud , Olivier Schwartz , Benjamin Terrier

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.

The journal of allergy and clinical immunology. In practice

Avec: Marie-Louise Frémond , Alice Hadchouel , Laureline Berteloot , Isabelle Melki , Violaine Bresson , Laura Barnabei , Nadia Jeremiah , Alexandre Belot , Vincent Bondet , Olivier Brocq , Damien Chan , Rawane Dagher , Jean-Christophe Dubus , Darragh Duffy , Séverine Feuillet-Soummer , Mathieu Fusaro , Marco Gattorno , Antonella Insalaco , Eric Jeziorski , Naoki Kitabayashi , Mireia Lopez-Corbeto , Françoise Mazingue , Marie-Anne Morren , Gillian I Rice , Jacques G Rivière , Luis Seabra , Jérôme Sirvente , Pere Soler-Palacin , Nathalie Stremler-Le Bel , Guillaume Thouvenin , Caroline Thumerelle , Eline Van Aerde , Stefano Volpi , Sophie Willcocks , Carine Wouters , Sylvain Breton , Thierry Molina , Brigitte Bader-Meunier , Despina Moshous , Alain Fischer , Stéphane Blanche , Frédéric Rieux-Laucat , Yanick J Crow , Bénédicte Neven

Scaling the tips of the ALPS.

Biomedical journal

Avec: Frédéric Rieux-Laucat , Jean M Kanellopoulos , David M Ojcius

La Revue de medecine interne

Avec: I Elhani , A Aouba , Q Riller , H Vergneault , G Boursier , F Rieux-Laucat , V Hentgen , S Georgin-Lavialle

Paediatric-onset Evans syndrome: Breaking away from refractory immune thrombocytopenia.

British journal of haematology

Avec: Nathalie Aladjidi , Thomas Pincez , Frédéric Rieux-Laucat , Diane Nugent

Loss of function of XBP1 splicing activity of IRE1α favors B cell tolerance breakdown.

Journal of autoimmunity

Avec: Quentin Reuschlé , Laurien Van Heddegem , Victor Bosteels , Matthieu Moncan , Sabine Depauw , Nadège Wadier , Sandra Maréchal , Clint De Nolf , Virginia Delgado , Yosra Messai , Marie-Claude Stolzenberg , Aude Magérus , Angélique Werck , Jérôme Olagne , Quan Li , Guillaume Lefevre , Anne-Sophie Korganow , Frédéric Rieux-Laucat , Sophie Janssens , Pauline Soulas-Sprauel

A20 haploinsufficiency: A systematic review of 177 cases.

The Journal of investigative dermatology

Avec: Inès Elhani , Quentin Riller , Guilaine Boursier , Véronique Hentgen , Frédéric Rieux-Laucat , Sophie Georgin-Lavialle

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.

The Journal of allergy and clinical immunology

Avec: Quentin Riller , Jacques Fourgeaud , Julie Bruneau , Suk See De Ravin , Grace Smith , Mathieu Fusaro , Samy Meriem , Aude Magerus , Marine Luka , Ghaith Abdessalem , Ludovic Lhermitte , Anne Jamet , Emmanuelle Six , Alessandra Magnani , Martin Castelle , Romain Lévy , Mathilde M Lecuit , Benjamin Fournier , Sarah Winter , Michaela Semeraro , Graziella Pinto , Hanène Abid , Nizar Mahlaoui , Nathalie Cheikh , Benoit Florkin , Pierre Frange , Eric Jeziorski , Felipe Suarez , Françoise Sarrot-Reynauld , Dalila Nouar , Dominique Debray , Florence Lacaille , Capucine Picard , Philippe Pérot , Béatrice Regnault , Nicolas Da Rocha , Camille de Cevins , Laure Delage , Brieuc P Pérot , Angélique Vinit , Francesco Carbone , Camille Brunaud , Manon Marchais , Marie-Claude Stolzenberg , Vahid Asnafi , Thierry Molina , Frédéric Rieux-Laucat , Luigi D Notarangelo , Stefania Pittaluga , Jean Philippe Jais , Despina Moshous , Stephane Blanche , Harry Malech , Marc Eloit , Marina Cavazzana , Alain Fischer , Mickaël M Ménager , Bénédicte Neven

Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.

The Journal of allergy and clinical immunology

Avec: Maria Elena Maccari , Pascal Schneider , Cristian Roberto Smulski , Andrea Meinhardt , Fernando Pinto , Luis Ignacio Gonzalez-Granado , Catharina Schuetz , Mauricio Pablo Sica , Miriam Gross , Ilka Fuchs , Patrick Kury , Maximilian Heeg , Tatjana Vocat , Laure Willen , Caroline Thomas , Regina Hühn , Aude Magerus , Myriam Lorenz , Klaus Schwarz , Frederic Rieux-Laucat , Stephan Ehl , Anne Rensing-Ehl

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.

British journal of haematology

Avec: Sophie de Tocqueville , Emmanuel Martin , Quentin Riller , Laëtitia Kermasson , Benoit France , Aude Magérus , Frédéric Rieux-Laucat , François Delhommeau , Pierre Hirsch , Aurore Touzart , Aude Echalier , Alain Fischer , Despina Moshous , Patrick Revy

Monogenic lupus: Dissecting heterogeneity.

Autoimmunity reviews

Avec: Ommar Omarjee , Cécile Picard , Cécile Frachette , Marion Moreews , Frederic Rieux-Laucat , Pauline Soulas-Sprauel , Sebastien Viel , Jean-Christophe Lega , Brigitte Bader-Meunier , Thierry Walzer , Anne-Laure Mathieu , Rolando Cimaz , Alexandre Belot

Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Science (New York, N.Y.)

Avec: Jérôme Hadjadj , Nader Yatim , Laura Barnabei , Aurélien Corneau , Jeremy Boussier , Nikaïa Smith , Hélène Péré , Bruno Charbit , Vincent Bondet , Camille Chenevier-Gobeaux , Paul Breillat , Nicolas Carlier , Rémy Gauzit , Caroline Morbieu , Frédéric Pène , Nathalie Marin , Nicolas Roche , Tali-Anne Szwebel , Sarah H Merkling , Jean-Marc Treluyer , David Veyer , Luc Mouthon , Catherine Blanc , Pierre-Louis Tharaux , Flore Rozenberg , Alain Fischer , Darragh Duffy , Frédéric Rieux-Laucat , Solen Kernéis , Benjamin Terrier

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.

Blood

Avec: Jarmila Stremenova Spegarova , Dylan Lawless , Siti Mardhiana Binti Mohamad , Karin R Engelhardt , Gina Doody , Jennifer Shrimpton , Anne Rensing-Ehl , Stephan Ehl , Frederic Rieux-Laucat , Catherine Cargo , Helen Griffin , Aneta Mikulasova , Meghan Acres , Neil V Morgan , James A Poulter , Eamonn G Sheridan , Philip Chetcuti , Sean O'Riordan , Rashida Anwar , Clive R Carter , Stefan Przyborski , Kevin Windebank , Andrew J Cant , Majlinda Lako , Chris M Bacon , Sinisa Savic , Sophie Hambleton

STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice.

Cell reports

Avec: Brock G Bennion , Carys A Croft , Teresa L Ai , Wei Qian , Amber M Menos , Cathrine A Miner , Marie-Louis Frémond , Jean-Marc Doisne , Prabhakar S Andhey , Derek J Platt , Jennifer K Bando , Erin R Wang , Hella Luksch , Thierry J Molina , Elisha D O Roberson , Maxim N Artyomov , Angela Rösen-Wolff , Marco Colonna , Frédéric Rieux-Laucat , James P Di Santo , Bénédicte Neven , Jonathan J Miner

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Nature communications

Avec: Jérôme Hadjadj , Carla Noemi Castro , Maud Tusseau , Marie-Claude Stolzenberg , Fabienne Mazerolles , Nathalie Aladjidi , Martin Armstrong , Houman Ashrafian , Ioana Cutcutache , Georg Ebetsberger-Dachs , Katherine S Elliott , Isabelle Durieu , Nicole Fabien , Mathieu Fusaro , Maximilian Heeg , Yohan Schmitt , Marc Bras , Julian C Knight , Jean-Christophe Lega , Gaetan Lesca , Anne-Laure Mathieu , Marion Moreews , Baptiste Moreira , Audrey Nosbaum , Matthew Page , Cécile Picard , T Ronan Leahy , Isabelle Rouvet , Ethel Ryan , Damien Sanlaville , Klaus Schwarz , Andrew Skelton , Jean-Francois Viallard , Sebastien Viel , Marine Villard , Isabelle Callebaut , Capucine Picard , Thierry Walzer , Stephan Ehl , Alain Fischer , Bénédicte Neven , Alexandre Belot , Frédéric Rieux-Laucat

Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation.

Stem cell research

Avec: Laura Barnabei , Mathieu Castela , Celine Banal , Nathalie Lefort , Frédéric Rieux-Laucat

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

Science (New York, N.Y.)

Avec: Paul Bastard , Lindsey B Rosen , Qian Zhang , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Yu Zhang , Karim Dorgham , Quentin Philippot , Jérémie Rosain , Vivien Béziat , Jérémy Manry , Elana Shaw , Liis Haljasmägi , Pärt Peterson , Lazaro Lorenzo , Lucy Bizien , Sophie Trouillet-Assant , Kerry Dobbs , Adriana Almeida de Jesus , Alexandre Belot , Anne Kallaste , Emilie Catherinot , Yacine Tandjaoui-Lambiotte , Jeremie Le Pen , Gaspard Kerner , Benedetta Bigio , Yoann Seeleuthner , Rui Yang , Alexandre Bolze , András N Spaan , Ottavia M Delmonte , Michael S Abers , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Lorenzo Piemonti , Fabio Ciceri , Kaya Bilguvar , Richard P Lifton , Marc Vasse , David M Smadja , Mélanie Migaud , Jérome Hadjadj , Benjamin Terrier , Darragh Duffy , Lluis Quintana-Murci , Diederik van de Beek , Lucie Roussel , Donald C Vinh , Stuart G Tangye , Filomeen Haerynck , David Dalmau , Javier Martinez-Picado , Petter Brodin , Michel C Nussenzweig , Stéphanie Boisson-Dupuis , Carlos Rodríguez-Gallego , Guillaume Vogt , Trine H Mogensen , Andrew J Oler , Jingwen Gu , Peter D Burbelo , Jeffrey I Cohen , Andrea Biondi , Laura Rachele Bettini , Mariella D'Angio , Paolo Bonfanti , Patrick Rossignol , Julien Mayaux , Frédéric Rieux-Laucat , Eystein S Husebye , Francesca Fusco , Matilde Valeria Ursini , Luisa Imberti , Alessandra Sottini , Simone Paghera , Eugenia Quiros-Roldan , Camillo Rossi , Riccardo Castagnoli , Daniela Montagna , Amelia Licari , Gian Luigi Marseglia , Xavier Duval , Jade Ghosn , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , John S Tsang , Raphaela Goldbach-Mansky , Kai Kisand , Michail S Lionakis , Anne Puel , Shen-Ying Zhang , Steven M Holland , Guy Gorochov , Emmanuelle Jouanguy , Charles M Rice , Aurélie Cobat , Luigi D Notarangelo , Laurent Abel , Helen C Su , Jean-Laurent Casanova

NF-κB: At the Borders of Autoimmunity and Inflammation.

Frontiers in immunology

Avec: Laura Barnabei , Emmanuel Laplantine , William Mbongo , Frédéric Rieux-Laucat , Robert Weil

Platelet activation in critically ill COVID-19 patients.

Annals of intensive care

Avec: Nader Yatim , Jeremy Boussier , Richard Chocron , Jérôme Hadjadj , Aurélien Philippe , Nicolas Gendron , Laura Barnabei , Bruno Charbit , Tali-Anne Szwebel , Nicolas Carlier , Frédéric Pène , Célia Azoulay , Lina Khider , Tristan Mirault , Jean-Luc Diehl , Coralie L Guerin , Frédéric Rieux-Laucat , Darragh Duffy , Solen Kernéis , David M Smadja , Benjamin Terrier

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

British journal of haematology

Avec: Chloé Bianchi , Henri Margot , Helder Fernandes , Marlène Pasquet , Laurence Priqueler , Frédérique Roy-Peaud , Frédéric Bauduer , Sophie Bayart , Nathalie Garnier , Olivier Fain , Julien Van Gils , Sandrine Baron Joly , Fanny Rialland , Catherine Paillard , Marianna Deparis , Anne Lambilliotte , Thierry Leblanc , Mony Fahd , Guy Leverger , Sébastien Héritier , David Geneviève , Frédéric Rieux-Laucat , Capucine Picard , Caroline Neyraud , Nathalie Aladjidi

Mendelian Causes of Autoimmunity: the Lupus Phenotype.

Journal of clinical immunology

Avec: Maud Tusseau , Samira Khaldi-Plassart , Jade Cognard , Sebastien Viel , Liliane Khoryati , Sarah Benezech , Anne-Laure Mathieu , Fréderic Rieux-Laucat , Brigitte Bader-Meunier , Alexandre Belot

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

The Journal of experimental medicine

Avec: 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

BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology.

Frontiers in medicine

Avec: Guillemette Fouquet , Julien Rossignol , Laure Ricard , Flavia Guillem , Lucile Couronné , Vahid Asnafi , Manon Vavasseur , Mélanie Parisot , Nicolas Garcelon , Frédéric Rieux-Laucat , Arsène Mekinian , Olivier Hermine

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).

Critical reviews in clinical laboratory sciences

Avec: Laura Casamayor-Polo , Marta López-Nevado , Estela Paz-Artal , Alberto Anel , Frederic Rieux-Laucat , Luis M Allende

Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4

Nature immunology

Avec: David Zemmour , Louis-Marie Charbonnier , Juliette Leon , Emmanuelle Six , Sevgi Keles , Marianne Delville , Mehdi Benamar , Safa Baris , Julien Zuber , Karin Chen , Benedicte Neven , Maria I Garcia-Lloret , Frank M Ruemmele , Carlo Brugnara , Nadine Cerf-Bensussan , Frederic Rieux-Laucat , Marina Cavazzana , Isabelle André , Talal A Chatila , Diane Mathis , Christophe Benoist

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Blood

Avec: Jérôme Hadjadj , Nathalie Aladjidi , Helder Fernandes , Guy Leverger , Aude Magérus-Chatinet , Fabienne Mazerolles , Marie-Claude Stolzenberg , Sidonie Jacques , Capucine Picard , Jérémie Rosain , Cécile Fourrage , Sylvain Hanein , Mohammed Zarhrate , Marlène Pasquet , Wadih Abou Chahla , Vincent Barlogis , Yves Bertrand , Isabelle Pellier , Elodie Colomb Bottollier , Fanny Fouyssac , Pascale Blouin , Caroline Thomas , Nathalie Cheikh , Eric Dore , Corinne Pondarre , Dominique Plantaz , Eric Jeziorski , Frédéric Millot , Nicolas Garcelon , Stéphane Ducassou , Yves Perel , Thierry Leblanc , Bénédicte Neven , Alain Fischer , Frédéric Rieux-Laucat , Auteur inconnu

FAS and RAS related Apoptosis defects: From autoimmunity to leukemia.

Immunological reviews

Avec: Sonia Meynier , Frédéric Rieux-Laucat

After 95 years, it's time to eRASe JMML.

Blood reviews

Avec: Sonia Meynier , Frédéric Rieux-Laucat

Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?

Case reports in immunology

Avec: Jean-François Viallard , Marie Parrens , Frédéric Rieux-Laucat

Two neurologic facets of CTLA4-related haploinsufficiency.

Neurology(R) neuroimmunology & neuroinflammation

Avec: Xavier Ayrignac , Radjiv Goulabchand , Eric Jeziorski , Patricia Rullier , Clarissa Carra-Dallière , Claire Lozano , Pierre Portales , Thierry Vincent , Jean François Viallard , Nicolas Menjot de Champfleur , Frédéric Rieux-Laucat , Caroline Besnard , Michel Koenig , Claire Guissart , Pierre Labauge , Philippe Guilpain

Type I interferon response and vascular alteration in chilblain-like lesions during the COVID-19 outbreak.

The British journal of dermatology

Avec: L Frumholtz , J-D Bouaziz , M Battistella , J Hadjadj , R Chocron , D Bengoufa , H Le Buanec , L Barnabei , S Meynier , O Schwartz , L Grzelak , N Smith , B Charbit , D Duffy , N Yatim , A Calugareanu , A Philippe , C L Guerin , B Joly , V Siguret , L Jaume , H Bachelez , M Bagot , F Rieux-Laucat , S Maylin , J Legoff , C Delaugerre , N Gendron , D M Smadja , C Cassius , Auteur inconnu

Severe COVID-19 is associated with hyperactivation of the alternative complement pathway.

The Journal of allergy and clinical immunology

Avec: Jeremy Boussier , Nader Yatim , Armance Marchal , Jérôme Hadjadj , Bruno Charbit , Carine El Sissy , Nicolas Carlier , Frédéric Pène , Luc Mouthon , Pierre-Louis Tharaux , Anne Bergeron , David M Smadja , Frédéric Rieux-Laucat , Darragh Duffy , Solen Kernéis , Véronique Frémeaux-Bacchi , Benjamin Terrier

Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection.

Nature immunology

Avec: Nikaïa Smith , Pedro Goncalves , Bruno Charbit , Ludivine Grzelak , Maxime Beretta , Cyril Planchais , Timothée Bruel , Vincent Rouilly , Vincent Bondet , Jérôme Hadjadj , Nader Yatim , Helene Pere , Sarah H Merkling , Amine Ghozlane , Solen Kernéis , Frederic Rieux-Laucat , Benjamin Terrier , Olivier Schwartz , Hugo Mouquet , Darragh Duffy , James P Di Santo

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

The Journal of experimental medicine

Avec: 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

Autoimmune-lymphoproliferative immunodeficiencies (ALPID) A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.

The Journal of allergy and clinical immunology

Avec: Aude Magerus , Anne Rensing-Ehl , V Koneti Rao , David Teachey , Frederic Rieux-Laucat , Stephan Ehl

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

The Journal of allergy and clinical immunology

Avec: Anne Rensing-Ehl , Myriam Ricarda Lorenz , Marita Führer , Wolfgang Willenbacher , Ella Willenbacher , Sieghart Sopper , Mario Abinun , Maria Elena Maccari , Christoph König , Pauline Haegele , Sebastian Fuchs , Carla Castro , Patrick Kury , Olivier Pelle , Christian Klemann , Maximilian Heeg , Julian Thalhammer , Oliver Wegehaupt , Marco Fischer , Sigune Goldacker , Björn Schulte , Saskia Biskup , Philippe Chatelain , Volker Schuster , Klaus Warnatz , Bodo Grimbacher , Andrea Meinhardt , Dirk Holzinger , Prasad Thomas Oommen , Tanja Hinze , Holger Hebart , Karlheinz Seeger , Kai Lehmberg , Timothy Ronan Leahy , Alexander Claviez , Simon Vieth , Freimut H Schilling , Ilka Fuchs , Miriam Groß , Frederic Rieux-Laucat , Aude Magerus , Carsten Speckmann , Klaus Schwarz , Stephan Ehl , Auteur inconnu

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.

Cell reports. Medicine

Avec: Camille de Cevins , Laure Delage , Maxime Batignes , Quentin Riller , Marine Luka , Anne Remaury , Boris Sorin , Tinhinane Fali , Cécile Masson , Bénédicte Hoareau , Catherine Meunier , Mélanie Parisot , Mohammed Zarhrate , Brieuc P Pérot , Víctor García-Paredes , Francesco Carbone , Lou Galliot , Béatrice Nal , Philippe Pierre , Luc Canard , Charlotte Boussard , Etienne Crickx , Jean-Claude Guillemot , Brigitte Bader-Meunier , Alexandre Bélot , Pierre Quartier , Marie-Louise Frémond , Bénédicte Neven , Galina Boldina , Franck Augé , Fischer Alain , Michel Didier , Frédéric Rieux-Laucat , Mickaël M Ménager

Neurological Involvement in Childhood Evans Syndrome.

Journal of clinical immunology

Avec: Thomas Pincez , Bénédicte Neven , Hubert Ducou Le Pointe , Pascale Varlet , Helder Fernandes , Albane Gareton , Guy Leverger , Thierry Leblanc , Hervé Chambost , Gérard Michel , Marlène Pasquet , Frédéric Millot , Olivier Hermine , Alexis Mathian , Marie Hully , Hélène Zephir , Mohamed Hamidou , Jean-Marc Durand , Yves Perel , Judith Landman-Parker , Fréderic Rieux-Laucat , Nathalie Aladjidi

Monitoring Disease Activity in Systemic Lupus Erythematosus With Single-Molecule Array Digital Enzyme-Linked Immunosorbent Assay Quantification of Serum Interferon-α.

Arthritis & rheumatology (Hoboken, N.J.)

Avec: Alexis Mathian , Suzanne Mouries-Martin , Karim Dorgham , Hervé Devilliers , Laura Barnabei , Elyès Ben Salah , Fleur Cohen-Aubart , Laura Garrido Castillo , Julien Haroche , Miguel Hie , Marc Pineton de Chambrun , Makoto Miyara , Delphine Sterlin , Micheline Pha , Du Lê Thi Huong , Frédéric Rieux-Laucat , Flore Rozenberg , Guy Gorochov , Zahir Amoura

Benign and malignant proliferation in idiopathic nephrotic syndrome: a French cohort study.

Pediatric nephrology (Berlin, Germany)

Avec: Clara Cébron , Astrid Godron-Dubrasquet , Nathalie Aladjidi , Gwenaelle Roussey , Olivia Boyer , Marina Avramescu , Veronique Baudouin , Joelle Terzic , Emma Allain-Launay , Frédéric Rieux-Laucat , Stéphane Decramer , Thomas Simon , Jérôme Harambat

The genetic landscape of the FAS pathway deficiencies.

Biomedical journal

Avec: Aude Magerus , Clara Bercher-Brayer , Frédéric Rieux-Laucat

RASopathies: From germline mutations to somatic and multigenic diseases.

Biomedical journal

Avec: Quentin Riller , Frédéric Rieux-Laucat

Regulation of the acetylcholine/α7nAChR anti-inflammatory pathway in COVID-19 patients.

Scientific reports

Avec: Alice Courties , Jeremy Boussier , Jérôme Hadjadj , Nader Yatim , Laura Barnabei , Hélène Péré , David Veyer , Solen Kernéis , Nicolas Carlier , Frédéric Pène , Frédéric Rieux-Laucat , Bruno Charbit , Vincent Bondet , Darragh Duffy , Francis Berenbaum , Benjamin Terrier , Jérémie Sellam

Immune checkpoint inhibitors increase T cell immunity during SARS-CoV-2 infection.

Science advances

Avec: Nader Yatim , Jeremy Boussier , Pauline Tetu , Nikaïa Smith , Timothée Bruel , Bruno Charbit , Laura Barnabei , Aurélien Corneau , Laetitia Da Meda , Clara Allayous , Barouyr Baroudjian , Majdi Jebali , Florian Herms , Ludivine Grzelak , Isabelle Staropoli , Vincent Calmettes , Jerome Hadjadj , Olivier Peyrony , Charles Cassius , Jerome LeGoff , Nora Kramkimel , Selim Aractingi , Magnus Fontes , Catherine Blanc , Frederic Rieux-Laucat , Olivier Schwartz , Benjamin Terrier , Darragh Duffy , Celeste Lebbé

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.

Med (New York, N.Y.)

Avec: Camille de Cevins , Marine Luka , Nikaïa Smith , Sonia Meynier , Aude Magérus , Francesco Carbone , Víctor García-Paredes , Laura Barnabei , Maxime Batignes , Alexandre Boullé , Marie-Claude Stolzenberg , Brieuc P Pérot , Bruno Charbit , Tinhinane Fali , Vithura Pirabakaran , Boris Sorin , Quentin Riller , Ghaith Abdessalem , Maxime Beretta , Ludivine Grzelak , Pedro Goncalves , James P Di Santo , Hugo Mouquet , Olivier Schwartz , Mohammed Zarhrate , Mélanie Parisot , Christine Bole-Feysot , Cécile Masson , Nicolas Cagnard , Aurélien Corneau , Camille Brunaud , Shen-Ying Zhang , Jean-Laurent Casanova , Brigitte Bader-Meunier , Julien Haroche , Isabelle Melki , Mathie Lorrot , Mehdi Oualha , Florence Moulin , Damien Bonnet , Zahra Belhadjer , Marianne Leruez , Slimane Allali , Christèle Gras-Leguen , Loïc de Pontual , Auteur inconnu , Alain Fischer , Darragh Duffy , Fredéric Rieux-Laucat , Julie Toubiana , Mickaël M Ménager

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

The Journal of allergy and clinical immunology

Avec: Marco Fischer , Peter Olbrich , Jérôme Hadjadj , Volker Aumann , Shahrzad Bakhtiar , Vincent Barlogis , Philipp von Bismarck , Markéta Bloomfield , Claire Booth , Emmeline P Buddingh , Deniz Cagdas , Martin Castelle , Alice Y Chan , Shanmuganathan Chandrakasan , Kritika Chetty , Pierre Cougoul , Etienne Crickx , Jasmeen Dara , Angela Deyà-Martínez , Susan Farmand , Renata Formankova , Andrew R Gennery , Luis Ignacio Gonzalez-Granado , David Hagin , Leif Gunnar Hanitsch , Jana Hanzlikovà , Fabian Hauck , José Ivorra-Cortés , Kai Kisand , Ayca Kiykim , Julia Körholz , Timothy Ronan Leahy , Joris van Montfrans , Zohreh Nademi , Brigitte Nelken , Suhag Parikh , Silvi Plado , Jan Ramakers , Antje Redlich , Frédéric Rieux-Laucat , Jacques G Rivière , Yulia Rodina , Pérsio Roxo Júnior , Sarah Salou , Catharina Schuetz , Anna Shcherbina , Mary A Slatter , Fabien Touzot , Ekrem Unal , Arjan C Lankester , Siobhan Burns , Mikko R J Seppänen , Olaf Neth , Michael H Albert , Stephan Ehl , Bénédicte Neven , Carsten Speckmann

AKT activity orchestrates marginal zone B cell development in mice and humans.

Cell reports

Avec: Eva-Maria Cox , Mohamed El-Behi , Stefanie Ries , Johannes F Vogt , Vivien Kohlhaas , Thomas Michna , Benoît Manfroi , Mona Al-Maarri , Florian Wanke , Boaz Tirosh , Corinne Pondarre , Harry Lezeau , Nir Yogev , Romy Mittenzwei , Marc Descatoire , Sandra Weller , Jean-Claude Weill , Claude-Agnès Reynaud , Pierre Boudinot , Luc Jouneau , Stefan Tenzer , Ute Distler , Anne Rensing-Ehl , Christoph König , Julian Staniek , Marta Rizzi , Aude Magérus , Frederic Rieux-Laucat , F Thomas Wunderlich , Nadine Hövelmeyer , Simon Fillatreau

Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation.

The Journal of allergy and clinical immunology

Avec: Akihiro Hoshino , Benoît Heid Picard , Sophia Polychronopoulou , Charikleia Kelaidi , Saba Azarnoush , Sven Kracker , Frédéric Rieux-Laucat , David Boutboul , Sylvain Latour

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.

medRxiv : the preprint server for health sciences

Avec: Stephanie Guillet , Tomi Lazarov , Natasha Jordan , Bertrand Boisson , Maria Tello , Barbara Craddock , Ting Zhou , Chihiro Nishi , Rohan Bareja , Hairu Yang , Frederic Rieux-Laucat , Rosa Irene Fregel Lorenzo , Sabrina D Dyall , David Isenberg , David D'Cruz , Nico Lachmann , Olivier Elemento , Agnes Viale , Nicholas D Socci , Laurent Abel , Shigekazu Nagata , Morgan Huse , W Todd Miller , Jean-Laurent Casanova , Frederic Geissmann

Biological Functions of Extracellular Vesicles from Mammalian Cells.

Biomedical journal

Avec: Jean M Kanellopoulos , Frédéric Rieux-Laucat , David M Ojcius

Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.

British journal of haematology

Avec: M Gilton , H Fernandes , C Martinez , G Leverger , W Abou Chahla , V Li Thiao Te , M Deparis , C Armari Alla , N Garnier , J Benadiba , A Marie-Cardine , F Rieux-Laucat , C Picard , N Aladjidi , T Leblanc

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

Journal of clinical immunology

Avec: Hélène Coignard-Biehler , Nizar Mahlaoui , Benoit Pilmis , Vincent Barlogis , Pauline Brosselin , Nathalie De Vergnes , Marianne Debré , Marion Malphettes , Pierre Frange , Emilie Catherinot , Isabelle Pellier , Isabelle Durieu , Antoinette Perlat , Bruno Royer , Alain Le Quellec , Eric Jeziorski , Alain Fischer , Olivier Lortholary , Auteur inconnu , Laurent Aaron , Daniel Adoue , Claire Aguilar , Nathalie Aladjidi , Alexandre Alcais , Zahir Amoura , Philippe Arlet , Corinne Armari-Alla , Brigitte Bader-Meunier , Sophie Bayart , Yves Bertrand , Boris Bienvenu , Stéphane Blanche , Damien Bodet , Bernard Bonnotte , Raphaël Borie , Patrick Boutard , Claire Briandet , Jean-Paul Brion , Jacques Brouard , Sarah Cohen-Beaussant , Laurence Costes , Louis-Jean Couderc , Pierre Cougoul , Virginie Courteille , Geneviève de Saint Basile , Catherine Devoldere , Anne Deville , Jean Donadieu , Eric Dore , Fabienne Dulieu , Christine Edan , Natacha Entz-Werle , Claire Fieschi , Amandine Forestier , Fanny Fouyssac , Vincent Gajdos , Lionel Galicier , Virginie Gandemer , Martine Gardembas , Catherine Gaud , Gaelle Guillerm , Eric Hachulla , Mohamed Hamidou , Olivier Hermine , Cyrille Hoarau , Sébastien Humbert , Arnaud Jaccard , Serge Jacquot , Jean-Philippe Jais , Roland Jaussaud , Pierre-Yves Jeandel , Kamila Kebaili , Anne-Sophie Korganow , Olivier Lambotte , Fanny Lanternier , Claire Larroche , Anne-Sophie Lascaux , Emmanuelle Le Moigne , Vincent Le Moing , Yvon Lebranchu , Marc Lecuit , Guillaume Lefevre , Richard Lemal , Valérie Li Thiao Te , Aude Marie-Cardine , Nicolas Martin Silva , Agathe Masseau , Christian Massot , Françoise Mazingue , Etienne Merlin , Gérard Michel , Frédéric Millot , Béatrice Monlibert , Fabrice Monpoux , Despina Moshous , Luc Mouthon , Martine Munzer , Bénédicte Neven , Raphaëlle Nove-Josserand , Eric Oksenhendler , Marie Ouachée-Chardin , Caroline Oudot , Anne Pagnier , Jean-Louis Pasquali , Marlène Pasquet , Yves Perel , Capucine Picard , Christophe Piguet , Dominique Plantaz , Johan Provot , Pierre Quartier , Frédéric Rieux-Laucat , Pascal Roblot , Pierre-Marie Roger , Pierre-Simon Rohrlich , Hervé Rubie , Valéry Salle , Françoise Sarrot-Reynauld , Amélie Servettaz , Jean-Louis Stephan , Nicolas Schleinitz , Felipe Suarez , Laure Swiader , Sophie Taque , Caroline Thomas , Olivier Tournilhac , Caroline Thumerelle , François Tron , Jean-Pierre Vannier , Jean-François Viallard

Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden.

Haematologica

Avec: Thomas Pincez , Helder Fernandes , Thierry Leblanc , Gérard Michel , Vincent Barlogis , Yves Bertrand , Bénédicte Neven , Wadih Abou Chahla , Marlène Pasquet , Corinne Guitton , Aude Marie-Cardine , Isabelle Pellier , Corinne Armari-Alla , Joy Benadiba , Pascale Blouin , Eric Jeziorski , Frédéric Millot , Catherine Paillard , Caroline Thomas , Nathalie Cheikh , Sophie Bayart , Fanny Fouyssac , Christophe Piguet , Marianna Deparis , Claire Briandet , Eric Dore , Capucine Picard , Frédéric Rieux-Laucat , Judith Landman-Parker , Guy Leverger , Nathalie Aladjidi

PD-L1 is expressed on human activated naive effector CD4+ T cells. Regulation by dendritic cells and regulatory CD4+ T cells.

PloS one

Avec: Fabienne Mazerolles , Frédéric Rieux-Laucat

Next Generation Sequencing for Detecting Somatic

Frontiers in immunology

Avec: Marta López-Nevado , Jorge Docampo-Cordeiro , José T Ramos , Rebeca Rodríguez-Pena , Celia Gil-López , Silvia Sánchez-Ramón , Juana Gil-Herrera , María J Díaz-Madroñero , María A Delgado-Martín , Pablo Morales-Pérez , Estela Paz-Artal , Aude Magerus , Frederic Rieux-Laucat , Luis M Allende

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

Blood advances

Avec: Tala Shahin , Daniel Mayr , Mohamed R Shoeb , Hye Sun Kuehn , Birgit Hoeger , Sarah Giuliani , Lisa M Gawriyski , Özlem Yüce Petronczki , Jérôme Hadjadj , Sevgi Köstel Bal , Samaneh Zoghi , Matthias Haimel , Raul Jimenez Heredia , David Boutboul , Michael P Triebwasser , Fanny Rialland-Battisti , Nathalie Costedoat Chalumeau , Pierre Quartier , Stuart G Tangye , Thomas A Fleisher , Nima Rezaei , Neil Romberg , Sylvain Latour , Markku Varjosalo , Florian Halbritter , Frédéric Rieux-Laucat , Irinka Castanon , Sergio D Rosenzweig , Kaan Boztug

Gain-of-function

Science immunology

Avec: Akihiro Hoshino , David Boutboul , Yuan Zhang , Hye Sun Kuehn , Jerôme Hadjadj , Nihal Özdemir , Tiraje Celkan , Christoph Walz , Capucine Picard , Christelle Lenoir , Nizar Mahlaoui , Christoph Klein , Xiao Peng , Antoine Azar , Erin Reigh , Morgane Cheminant , Alain Fischer , Frédéric Rieux-Laucat , Isabelle Callebaut , Fabian Hauck , Joshua Milner , Sergio D Rosenzweig , Sylvain Latour

A Multi-Omics Common Data Model for Primary Immunodeficiencies.

Studies in health technology and informatics

Avec: Mélanie Buy , William Digan , Xiaoyi Chen , Julien Husson , Mickael Ménager , Frédéric Rieux-Laucat , Nicolas Garcelon , Auteur inconnu

International journal of molecular sciences

Avec: Christine Fardeau , Munirah Alafaleq , Marie-Adélaïde Ferchaud , Miguel Hié , Caroline Besnard , Sonia Meynier , Frédéric Rieux-Laucat , Damien Roos-Weil , Fleur Cohen , Isabelle Meunier

Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.

Journal of clinical immunology

Avec: Vincent Allain , Virginie Grandin , Véronique Meignin , Rémi Bertinchamp , David Boutboul , Claire Fieschi , Lionel Galicier , Laurence Gérard , Marion Malphettes , Jacinta Bustamante , Mathieu Fusaro , Nathalie Lambert , Jérémie Rosain , Christelle Lenoir , Sven Kracker , Frédéric Rieux-Laucat , Sylvain Latour , Jean-Pierre de Villartay , Capucine Picard , Eric Oksenhendler

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.

Blood

Avec: Charlotte Boussard , Laure Delage , Tania Gajardo , Alexandre Kauskot , Maxime Batignes , Nicolas Goudin , Marie-Claude Stolzenberg , Camille Brunaud , Patricia Panikulam , Quentin Riller , Maryse Moya-Nilges , Jean Solarz , Christelle Repérant , Béatrice Durel , Jean-Claude Bordet , Olivier Pellé , Corinne Lebreton , Aude Magérus , Vithura Pirabakaran , Pablo Vargas , Sébastien Dupichaud , Marie Jeanpierre , Angélique Vinit , Mohammed Zarhrate , Cécile Masson , Nathalie Aladjidi , Peter D Arkwright , Brigitte Bader-Meunier , Sandrine Baron Joly , Joy Benadiba , Elise Bernard , Dominique Berrebi , Christine Bodemer , Martin Castelle , Fabienne Charbit-Henrion , Marwa Chbihi , Agathe Debray , Philippe Drabent , Sylvie Fraitag , Miguel Hié , Judith Landman-Parker , Ludovic Lhermitte , Despina Moshous , Pierre Rohrlich , Frank Ruemmele , Anne Welfringer-Morin , Maud Tusseau , Alexandre Belot , Nadine Cerf-Bensussan , Marie Roelens , Capucine Picard , Bénédicte Neven , Alain Fischer , Isabelle Callebaut , Mickaël Ménager , Fernando E Sepulveda , Frédéric Adam , Frédéric Rieux-Laucat

Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.

Cell reports. Medicine

Avec: Steicy Sobrino , Alessandra Magnani , Michaela Semeraro , Loredana Martignetti , Akira Cortal , Adeline Denis , Chloé Couzin , Capucine Picard , Jacinta Bustamante , Elisa Magrin , Laure Joseph , Cécile Roudaut , Aurélie Gabrion , Tayebeh Soheili , Corinne Cordier , Olivier Lortholary , François Lefrere , Frédéric Rieux-Laucat , Jean-Laurent Casanova , Sylvain Bodard , Nathalie Boddaert , Adrian J Thrasher , Fabien Touzot , Sophie Taque , Felipe Suarez , Ambroise Marcais , Agathe Guilloux , Chantal Lagresle-Peyrou , Anne Galy , Antonio Rausell , Stephane Blanche , Marina Cavazzana , Emmanuelle Six

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.

Nature communications

Avec: Laure Delage , Francesco Carbone , Quentin Riller , Jean-Luc Zachayus , Erwan Kerbellec , Armelle Buzy , Marie-Claude Stolzenberg , Marine Luka , Camille de Cevins , Georges Kalouche , Rémi Favier , Alizée Michel , Sonia Meynier , Aurélien Corneau , Caroline Evrard , Nathalie Neveux , Sébastien Roudières , Brieuc P Pérot , Mathieu Fusaro , Christelle Lenoir , Olivier Pellé , Mélanie Parisot , Marc Bras , Sébastien Héritier , Guy Leverger , Anne-Sophie Korganow , Capucine Picard , Sylvain Latour , Bénédicte Collet , Alain Fischer , Bénédicte Neven , Aude Magérus , Mickaël Ménager , Benoit Pasquier , Frédéric Rieux-Laucat

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

The Journal of allergy and clinical immunology

Avec: Olivier Pellé , Solange Moreno , Myriam Ricarda Lorenz , Quentin Riller , Marita Fuehrer , Marie-Claude Stolzenberg , Maria Elena Maccari , Christelle Lenoir , Morgane Cheminant , Tanja Hinze , Holger F Hebart , Christoph König , Adrien Schvartz , Yohann Schmitt , Angélique Vinit , Emilie Henry , Aurore Touzart , Patrick Villarese , Pierre Isnard , Nathalie Neveux , Judith Landman-Parker , Capucine Picard , Fanny Fouyssac , Bénédicte Neven , Bodo Grimbacher , Carsten Speckmann , Alain Fischer , Sylvain Latour , Klaus Schwarz , Stephan Ehl , Frédéric Rieux-Laucat , Anne Rensing-Ehl , Aude Magérus

Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.

Journal of clinical immunology

Avec: Maria Rodrigo Riestra , Bethany A Pillay , Mathijs Willemsen , Verena Kienapfel , Lisa Ehlers , Selket Delafontaine , Antoine Pinton , Marjon Wouters , Anneleen Hombrouck , Kate Sauer , Xavier Bossuyt , Arnout Voet , Stefaan J Soenen , Cecilia Dominguez Conde , Giorgia Bucciol , Kaan Boztug , Stephanie Humblet-Baron , Aurore Touzart , Frédéric Rieux-Laucat , Luigi D Notarangelo , Leen Moens , Isabelle Meyts

Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.

Science immunology

Avec: Julian Staniek , Tomas Kalina , Geoffroy Andrieux , Melanie Boerries , Iga Janowska , Manuel Fuentes , Paula Díez , Marina Bakardjieva , Jitka Stancikova , Jan Raabe , Julika Neumann , Sabine Schwenk , Leonardo Arpesella , Jan Stuchly , Vladimir Benes , Rodrigo García Valiente , Jonatan Fernández García , Rita Carsetti , Eva Piano Mortari , Albert Catala , Oscar de la Calle , Georgios Sogkas , Bénédicte Neven , Frédéric Rieux-Laucat , Aude Magerus , Olaf Neth , Peter Olbrich , Reinhard E Voll , Laia Alsina , Luis M Allende , Luis I Gonzalez-Granado , Chiara Böhler , Jens Thiel , Nils Venhoff , Raquel Lorenzetti , Klaus Warnatz , Susanne Unger , Maximilian Seidl , Dirk Mielenz , Pascal Schneider , Stephan Ehl , Anne Rensing-Ehl , Cristian Roberto Smulski , Marta Rizzi

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Nature

Avec: Tom Le Voyer , Audrey V Parent , Xian Liu , Axel Cederholm , Adrian Gervais , Jérémie Rosain , Tina Nguyen , Malena Perez Lorenzo , Elze Rackaityte , Darawan Rinchai , Peng Zhang , Lucy Bizien , Gonca Hancioglu , Pascale Ghillani-Dalbin , Jean-Luc Charuel , Quentin Philippot , Mame Sokhna Gueye , Majistor Raj Luxman Maglorius Renkilaraj , Masato Ogishi , Camille Soudée , Mélanie Migaud , Flore Rozenberg , Mana Momenilandi , Quentin Riller , Luisa Imberti , Ottavia M Delmonte , Gabriele Müller , Baerbel Keller , Julio Orrego , William Alexander Franco Gallego , Tamar Rubin , Melike Emiroglu , Nima Parvaneh , Daniel Eriksson , Maribel Aranda-Guillen , David I Berrios , Linda Vong , Constance H Katelaris , Peter Mustillo , Johannes Raedler , Jonathan Bohlen , Jale Bengi Celik , Camila Astudillo , Sarah Winter , Auteur inconnu , Auteur inconnu , Catriona McLean , Aurélien Guffroy , Joseph L DeRisi , David Yu , Corey Miller , Yi Feng , Audrey Guichard , Vivien Béziat , Jacinta Bustamante , Qiang Pan-Hammarström , Yu Zhang , Lindsey B Rosen , Steve M Holland , Marita Bosticardo , Heather Kenney , Riccardo Castagnoli , Charlotte A Slade , Kaan Boztuğ , Nizar Mahlaoui , Sylvain Latour , Roshini S Abraham , Vassilios Lougaris , Fabian Hauck , Anna Sediva , Faranaz Atschekzei , Georgios Sogkas , M Cecilia Poli , Mary A Slatter , Boaz Palterer , Michael D Keller , Alberto Pinzon-Charry , Anna Sullivan , Luke Droney , Daniel Suan , Melanie Wong , Alisa Kane , Hannah Hu , Cindy Ma , Hana Grombiříková , Peter Ciznar , Ilan Dalal , Nathalie Aladjidi , Miguel Hie , Estibaliz Lazaro , Jose Franco , Sevgi Keles , Marion Malphettes , Marlene Pasquet , Maria Elena Maccari , Andrea Meinhardt , Aydan Ikinciogullari , Mohammad Shahrooei , Fatih Celmeli , Patrick Frosk , Christopher C Goodnow , Paul E Gray , Alexandre Belot , Hye Sun Kuehn , Sergio D Rosenzweig , Makoto Miyara , Francesco Licciardi , Amélie Servettaz , Vincent Barlogis , Guillaume Le Guenno , Vera-Maria Herrmann , Taco Kuijpers , Grégoire Ducoux , Françoise Sarrot-Reynauld , Catharina Schuetz , Charlotte Cunningham-Rundles , Frédéric Rieux-Laucat , Stuart G Tangye , Cristina Sobacchi , Rainer Doffinger , Klaus Warnatz , Bodo Grimbacher , Claire Fieschi , Laureline Berteloot , Vanessa L Bryant , Sophie Trouillet Assant , Helen Su , Benedicte Neven , Laurent Abel , Qian Zhang , Bertrand Boisson , Aurélie Cobat , Emmanuelle Jouanguy , Olle Kampe , Paul Bastard , Chaim M Roifman , Nils Landegren , Luigi D Notarangelo , Mark S Anderson , Jean-Laurent Casanova , Anne Puel

A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.

Clinical immunology (Orlando, Fla.)

Avec: Mathieu Fusaro , Cyrille Coustal , Laura Barnabei , Quentin Riller , Marion Heller , Duong Ho Nhat , Cécile Fourrage , Sophie Rivière , Frédéric Rieux-Laucat , Alexandre Thibault Jacques Maria , Capucine Picard

Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.

Cell death & disease

Avec: Filippo Consonni , Solange Moreno , Blanca Vinuales Colell , Marie-Claude Stolzenberg , Alicia Fernandes , Mélanie Parisot , Cécile Masson , Nathalie Neveux , Jérémie Rosain , Sarah Bamberger , Marie-Gabrielle Vigue , Marion Malphettes , Pierre Quartier , Capucine Picard , Frédéric Rieux-Laucat , Aude Magerus

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.

medRxiv : the preprint server for health sciences

Avec: Quentin Riller , Boris Sorin , Charline Courteille , Duong Ho-Nhat , Tom Le Voyer , Jean-Christophe Debray , Marie-Claude Stolzenberg , Olivier Pellé , Thomas Becquard , María Rodrigo Riestra , Laureline Berteloot , Mélanie Migaud , Laure Delage , Marie Jeanpierre , Charlotte Boussard , Camille Brunaud , Aude Magérus , 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

Réseau de co-auteurs

Frédéric Rieux-Laucat 52 collaborations

None None 18 collaborations

Bénédicte Neven 15 collaborations

Capucine Picard 15 collaborations

Frederic Rieux-Laucat 13 collaborations

Alain Fischer 13 collaborations

Quentin Riller 13 collaborations

Marie-Claude Stolzenberg 12 collaborations

Nathalie Aladjidi 11 collaborations

Alexandre Belot 10 collaborations

Laura Barnabei 10 collaborations

Darragh Duffy 9 collaborations

Jérôme Hadjadj 9 collaborations

Benjamin Terrier 8 collaborations

Brigitte Bader-Meunier 8 collaborations

Aude Magérus 8 collaborations

Aude Magerus 8 collaborations

Stephan Ehl 8 collaborations

Anne Rensing-Ehl 7 collaborations

Bruno Charbit 7 collaborations

Sylvain Latour 7 collaborations

Laure Delage 6 collaborations

Mathieu Fusaro 6 collaborations

Eric Jeziorski 6 collaborations

Nader Yatim 6 collaborations

Jean-Laurent Casanova 6 collaborations

Guy Leverger 6 collaborations

Despina Moshous 5 collaborations

Aurélien Corneau 5 collaborations

Jeremy Boussier 5 collaborations

Solen Kernéis 5 collaborations

Jérémie Rosain 5 collaborations

Marlène Pasquet 5 collaborations

Mélanie Parisot 5 collaborations

Vincent Barlogis 5 collaborations

Sonia Meynier 5 collaborations

Marion Malphettes 5 collaborations

Cécile Masson 5 collaborations

Anne-Sophie Korganow 4 collaborations

Luc Mouthon 4 collaborations

Olivier Schwartz 4 collaborations

Vincent Bondet 4 collaborations

Marine Luka 4 collaborations

Nizar Mahlaoui 4 collaborations

Felipe Suarez 4 collaborations

Camille de Cevins 4 collaborations

Brieuc P Pérot 4 collaborations

Francesco Carbone 4 collaborations

Camille Brunaud 4 collaborations

Luigi D Notarangelo 4 collaborations

Maria Elena Maccari 4 collaborations

Caroline Thomas 4 collaborations

Klaus Schwarz 4 collaborations

Anne-Laure Mathieu 4 collaborations

Nikaïa Smith 4 collaborations

Nicolas Carlier 4 collaborations

Frédéric Pène 4 collaborations

Maud Tusseau 4 collaborations

Helder Fernandes 4 collaborations

Thierry Leblanc 4 collaborations

Mohammed Zarhrate 4 collaborations

Fanny Fouyssac 4 collaborations

Frédéric Millot 4 collaborations

Pierre Quartier 4 collaborations

Judith Landman-Parker 4 collaborations

David Boutboul 4 collaborations

Christelle Lenoir 4 collaborations

Olivier Pellé 4 collaborations

Pauline Soulas-Sprauel 3 collaborations

Timothée Bruel 3 collaborations

David Veyer 3 collaborations

Hélène Péré 3 collaborations

Laureline Berteloot 3 collaborations

Isabelle Melki 3 collaborations

F Rieux-Laucat 3 collaborations

Thomas Pincez 3 collaborations

Emmanuelle Six 3 collaborations

Martin Castelle 3 collaborations

Nathalie Cheikh 3 collaborations

Françoise Sarrot-Reynauld 3 collaborations

Angélique Vinit 3 collaborations

Marina Cavazzana 3 collaborations

Mickaël M Ménager 3 collaborations

Andrea Meinhardt 3 collaborations

Catharina Schuetz 3 collaborations

Maximilian Heeg 3 collaborations

Aurore Touzart 3 collaborations

Sebastien Viel 3 collaborations

Thierry Walzer 3 collaborations

Flore Rozenberg 3 collaborations

James P Di Santo 3 collaborations

Fabienne Mazerolles 3 collaborations

Isabelle Callebaut 3 collaborations

David M Smadja 3 collaborations

Mélanie Migaud 3 collaborations

Stuart G Tangye 3 collaborations

Anne Puel 3 collaborations

Laurent Abel 3 collaborations

Sophie Bayart 3 collaborations

Zahir Amoura 3 collaborations

Nicolas Garcelon 3 collaborations

Olivier Hermine 3 collaborations

Luis M Allende 3 collaborations

Yves Bertrand 3 collaborations

Isabelle Pellier 3 collaborations

Eric Dore 3 collaborations

Yves Perel 3 collaborations

Ludivine Grzelak 3 collaborations

Marie Jeanpierre 3 collaborations

Etienne Crickx 3 collaborations

Christine Bole-Feysot 3 collaborations

Nicolas Cagnard 3 collaborations

Christoph König 3 collaborations

Klaus Warnatz 3 collaborations

Bodo Grimbacher 3 collaborations

Carsten Speckmann 3 collaborations

Maxime Batignes 3 collaborations

Boris Sorin 3 collaborations

Charlotte Boussard 3 collaborations

Gérard Michel 3 collaborations

Fabian Hauck 3 collaborations

Claire Fieschi 3 collaborations

Hye Sun Kuehn 3 collaborations

Sergio D Rosenzweig 3 collaborations

Jacinta Bustamante 3 collaborations

Nathalie Neveux 3 collaborations

Virginia Delgado 2 collaborations

Nadia Jeremiah 2 collaborations

Yanick J Crow 2 collaborations

Jerome Hadjadj 2 collaborations

Isabelle Staropoli 2 collaborations

Caroline Morbieu 2 collaborations

Marie-Louise Frémond 2 collaborations

Françoise Mazingue 2 collaborations

Jacques G Rivière 2 collaborations

Caroline Thumerelle 2 collaborations

Thierry Molina 2 collaborations

Stéphane Blanche 2 collaborations

Jean M Kanellopoulos 2 collaborations

David M Ojcius 2 collaborations

Guillaume Lefevre 2 collaborations

Guilaine Boursier 2 collaborations

Sophie Georgin-Lavialle 2 collaborations

Ghaith Abdessalem 2 collaborations

Ludovic Lhermitte 2 collaborations

Alessandra Magnani 2 collaborations

Sarah Winter 2 collaborations

Michaela Semeraro 2 collaborations

Pierre Frange 2 collaborations

Vahid Asnafi 2 collaborations

Stephane Blanche 2 collaborations

Pascal Schneider 2 collaborations

Cristian Roberto Smulski 2 collaborations

Luis Ignacio Gonzalez-Granado 2 collaborations

Ilka Fuchs 2 collaborations

Patrick Kury 2 collaborations

Cécile Picard 2 collaborations

Marion Moreews 2 collaborations

Jean-Christophe Lega 2 collaborations

Tali-Anne Szwebel 2 collaborations

Sarah H Merkling 2 collaborations

Catherine Blanc 2 collaborations

Pierre-Louis Tharaux 2 collaborations

Isabelle Durieu 2 collaborations

Marc Bras 2 collaborations

Paul Bastard 2 collaborations

Lindsey B Rosen 2 collaborations

Qian Zhang 2 collaborations

Yu Zhang 2 collaborations

Karim Dorgham 2 collaborations

Quentin Philippot 2 collaborations

Vivien Béziat 2 collaborations

Lucy Bizien 2 collaborations

Emilie Catherinot 2 collaborations

Ottavia M Delmonte 2 collaborations

Luisa Imberti 2 collaborations

Riccardo Castagnoli 2 collaborations

Kai Kisand 2 collaborations

Shen-Ying Zhang 2 collaborations

Guy Gorochov 2 collaborations

Emmanuelle Jouanguy 2 collaborations

Aurélie Cobat 2 collaborations

Sandrine Baron Joly 2 collaborations

Catherine Paillard 2 collaborations

Marianna Deparis 2 collaborations

Sébastien Héritier 2 collaborations

Jade Cognard 2 collaborations

Etienne Merlin 2 collaborations

Alexandre Thibault Jacques Maria 2 collaborations

Anne Pagnier 2 collaborations

Olivier Lambotte 2 collaborations

Marta López-Nevado 2 collaborations

Estela Paz-Artal 2 collaborations

Sevgi Keles 2 collaborations

Benedicte Neven 2 collaborations

Nadine Cerf-Bensussan 2 collaborations

Cécile Fourrage 2 collaborations

Wadih Abou Chahla 2 collaborations

Pascale Blouin 2 collaborations

Corinne Pondarre 2 collaborations

Dominique Plantaz 2 collaborations

Jean-François Viallard 2 collaborations

Caroline Besnard 2 collaborations

Pedro Goncalves 2 collaborations

Maxime Beretta 2 collaborations

Hugo Mouquet 2 collaborations

Myriam Ricarda Lorenz 2 collaborations

Marco Fischer 2 collaborations

Tanja Hinze 2 collaborations

Timothy Ronan Leahy 2 collaborations

Tinhinane Fali 2 collaborations

Víctor García-Paredes 2 collaborations

Alexis Mathian 2 collaborations

Mohamed Hamidou 2 collaborations

Julien Haroche 2 collaborations

Miguel Hie 2 collaborations

Makoto Miyara 2 collaborations

Vithura Pirabakaran 2 collaborations

Peter Olbrich 2 collaborations

Pierre Cougoul 2 collaborations

Mary A Slatter 2 collaborations

Fabien Touzot 2 collaborations

Olaf Neth 2 collaborations

Julian Staniek 2 collaborations

Marta Rizzi 2 collaborations

Akihiro Hoshino 2 collaborations

Sven Kracker 2 collaborations

Bertrand Boisson 2 collaborations

Olivier Lortholary 2 collaborations

Corinne Armari-Alla 2 collaborations

Claire Briandet 2 collaborations

Lionel Galicier 2 collaborations

Aude Marie-Cardine 2 collaborations

Eric Oksenhendler 2 collaborations

Christophe Piguet 2 collaborations

Amélie Servettaz 2 collaborations

Sophie Taque 2 collaborations

Joy Benadiba 2 collaborations

Kaan Boztug 2 collaborations

Morgane Cheminant 2 collaborations

Miguel Hié 2 collaborations

Mickaël Ménager 2 collaborations

Solange Moreno 2 collaborations

Isabelle Meyts 2 collaborations

Georgios Sogkas 2 collaborations

Tom Le Voyer 2 collaborations

Delphine Bouis 1 collaboration

Peggy Kirstetter 1 collaboration

Florent Arbogast 1 collaboration

Delphine Lamon 1 collaboration

Sophie Jung 1 collaboration

Claudine Ebel 1 collaboration

Hugues Jacobs 1 collaboration

Anne-Marie Knapp 1 collaboration

Thierry Martin 1 collaboration

Isabelle André-Schmutz 1 collaboration

Delphine Planas 1 collaboration

Amani Ouedrani 1 collaboration

Solene Buffier 1 collaboration

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Hana Grombiříková 1 collaboration

Peter Ciznar 1 collaboration

Ilan Dalal 1 collaboration

Estibaliz Lazaro 1 collaboration

Jose Franco 1 collaboration

Marlene Pasquet 1 collaboration

Aydan Ikinciogullari 1 collaboration

Mohammad Shahrooei 1 collaboration

Fatih Celmeli 1 collaboration

Patrick Frosk 1 collaboration

Christopher C Goodnow 1 collaboration

Paul E Gray 1 collaboration

Francesco Licciardi 1 collaboration

Guillaume Le Guenno 1 collaboration

Vera-Maria Herrmann 1 collaboration

Taco Kuijpers 1 collaboration

Grégoire Ducoux 1 collaboration

Charlotte Cunningham-Rundles 1 collaboration

Cristina Sobacchi 1 collaboration

Rainer Doffinger 1 collaboration

Vanessa L Bryant 1 collaboration

Sophie Trouillet Assant 1 collaboration

Helen Su 1 collaboration

Olle Kampe 1 collaboration

Chaim M Roifman 1 collaboration

Nils Landegren 1 collaboration

Mark S Anderson 1 collaboration

Cyrille Coustal 1 collaboration

Marion Heller 1 collaboration

Duong Ho Nhat 1 collaboration

Sophie Rivière 1 collaboration

Filippo Consonni 1 collaboration

Blanca Vinuales Colell 1 collaboration

Alicia Fernandes 1 collaboration

Sarah Bamberger 1 collaboration

Marie-Gabrielle Vigue 1 collaboration

Charline Courteille 1 collaboration

Duong Ho-Nhat 1 collaboration

Jean-Christophe Debray 1 collaboration

Thomas Becquard 1 collaboration

María Rodrigo Riestra 1 collaboration

Victor Michel 1 collaboration

Camille Roux 1 collaboration

Véronique Baud 1 collaboration

Emmanuel Dejardin 1 collaboration

Cécile Boulanger 1 collaboration