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SaveShare Save Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
Riller, Quentin; Sorin, Boris; Courteille, Charline; Ho-Nhat, Duong; Le Voyer, Tom; Debray, Jean-Christophe; Stolzenberg, Marie-Claude; Schmutz, Muriel; Pelle, Olivier; Becquard, Thomas; Riestra, Maria Rodrigo; Berteloot, Laureline; Migaud, Melanie; Delage, Laure; Jeanpierre, Marie; Boussard, Charlotte; Brunaud, Camille; Magerus, Aude; Bretot, Charles; Michel, Victor; Roux, Camille; Picard, Capucine; Masson, Cecile; Bole-Feysot, Christine; Cagnard, Nicolas; Corneau, Aurelien; Meyts, Isabelle; Baud, Veronique; Fischer, Alain; Dejardin, Emmanuel; Boulanger, Cecile; Neven, Benedicte; Rieux-Laucat, Frederic Share Save Share Save Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupusJeanpierre, Marie; Cognard, Jade; Tusseau, Maud; Riller, Quentin; Bui, Linh-Chi; Berthelet, Jeremy; Laurent, Audrey; Crickx, Etienne; Parlato, Marianna; Stolzenberg, Marie-Claude; Suarez, Felipe; Leverger, Guy; Aladjidi, Nathalie; Collardeau-Frachon, Sophie; Pietrement, Christine; Malphettes, Marion; Froissart, Antoine; Bole-Feysot, Christine; Cagnard, Nicolas; Lima, Fernando Rodrigues; Walzer, Thierry; Rieux-Laucat, Frederic; Belot, Alexandre; Mathieu, Anne-Laure Share Save HETEROZYGOUS LOSS-OF-FUNCTION RELA MUTATIONS LEAD TO SYSTEMIC LUPUS ERYTHEMATOSUS OR AUTOINFLAMMATORY SYNDROMERiller, Q.; Barnabei, L.; Rodrigo-Riestra, M.; Stolzenberg, M. C.; Pelle, O.; Delage, L.; Becquard, T.; Courteille, C.; Marchais, M.; De Cevins, C.; Brunaud, C.; Magerus, A.; Luka, M.; Sorin, B.; Boussard, C.; Salomon, R.; Menager, M.; Hie, M.; Neven, B.; Baud, V.; Skokowa, J.; Sogkas, G.; Jamilloux, Y.; Merlin, E.; Belot, A.; Picard, C.; Boursier, G.; Rivere, E.; Georgin-Lavialle, S.; Quartier, P.; Bader-Meunier, B.; Fischer, A.; Miner, J. J.; Rieux-Laucat, F. Share Save Share Save Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndromePelle, Olivier; Moreno, Solange; Lorenz, Myriam Ricarda; Riller, Quentin; Fuehrer, Marita; Stolzenberg, Marie -Claude; Maccari, Maria Elena; Lenoir, Christelle; Cheminant, Morgane; Hinze, Tanja; Hebart, Holger F.; Koenig, Christoph; Schvartz, Adrien; Schmitt, Yohann; Vinit, Angelique; Henry, Emilie; Touzart, Aurore; Villarese, Patrick; Isnard, Pierre; Neveux, Nathalie; Landman-Parker, Judith; Picard, Capucine; Fouyssac, Fanny; Neven, Benedicte; Grimbacher, Bodo; Speckmann, Carsten; Fischer, Alain; Latour, Sylvain; Schwarz, Klaus; Ehl, Stephan; Rieux-Laucat, Frederic; Rensing-Ehl, Anne; Magerus, Aude Share Save Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress responsede Cevins, Camille; Delage, Laure; Batignes, Maxime; Riller, Quentin; Luka, Marine; Remaury, Anne; Sorin, Boris; Fali, Tinhinane; Masson, Cecile; Hoareau, Benedicte; Meunier, Catherine; Parisot, Melanie; Zarhrate, Mohammed; Perot, Brieuc P.; Garcia-Paredes, Victor; Carbone, Francesco; Galliot, Lou; Nal, Beatrice; Pierre, Philippe; Canard, Luc; Boussard, Charlotte; Crickx, Etienne; Guillemot, Jean-Claude; Bader-Meunier, Brigitte; Belot, Alexandre; Quartier, Pierre; Fremond, Marie-Louise; Neven, Benedicte; Boldina, Galina; Auge, Franck; Alain, Fischer; Didier, Michel; Rieux-Laucat, Frederic; Menager, Mickaoel M. Share Save NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cellsDelage, Laure; Carbone, Francesco; Riller, Quentin; Zachayus, Jean-Luc; Kerbellec, Erwan; Buzy, Armelle; Stolzenberg, Marie-Claude; Luka, Marine; de Cevins, Camille; Kalouche, Georges; Favier, Remi; Michel, Alizee; Meynier, Sonia; Corneau, Aurelien; Evrard, Caroline; Neveux, Nathalie; Roudieres, Sebastien; Perot, Brieuc P.; Fusaro, Mathieu; Lenoir, Christelle; Pelle, Olivier; Parisot, Melanie; Bras, Marc; Heritier, Sebastien; Leverger, Guy; Korganow, Anne-Sophie; Picard, Capucine; Latour, Sylvain; Collet, Benedicte; Fischer, Alain; Neven, Benedicte; Magerus, Aude; Menager, Mickael; Pasquier, Benoit; Rieux-Laucat, Frederic Share Save Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patientsRiller, Quentin; Fourgeaud, Jacques; Bruneau, Julie; De Ravin, Suk See; Smith, Grace; Fusaro, Mathieu; Meriem, Samy; Magerus, Aude; Luka, Marine; Abdessalem, Ghaith; Lhermitte, Ludovic; Jamet, Anne; Six, Emmanuelle; Magnani, Alessandra; Castelle, Martin; Levy, Romain; Lecuit, Mathilde M.; Fournier, Benjamin; Winter, Sarah; Semeraro, Michaela; Pinto, Graziella; Abid, Hanene; Mahlaoui, Nizar; Cheikh, Nathalie; Florkin, Benoit; Frange, Pierre; Jeziorski, Eric; Suarez, Felipe; Sarrot-Reynauld, Francoise; Nouar, Dalila; Debray, Dominique; Lacaille, Florence; Picard, Capucine; Perot, Philippe; Regnault, Beatrice; Da Rocha, Nicolas; de Cevins, Camille; Delage, Laure; Perot, Brieuc P.; Vinit, Angelique; Carbone, Francesco; Brunaud, Camille; Marchais, Manon; Stolzenberg, Marie-Claude; Asnafi, Vahid; Molina, Thierry; Rieux-Laucat, Frederic; Notarangelo, Luigi D.; Pittaluga, Stefania; Philippe, Jean; Moshous, Despina; Blanche, Stephane; Malech, Harry; Eloit, Marc; Cavazzana, Marina; Fischer, Alain; Menager, Mickaeeurol M.; Neven, Benedicte Share Save Case Report: Cerebral Nocardiosis Caused by Nocardia cyriacigeorgica Detected by Metagenomics in an Apparently Immunocompetent PatientCourbin, Virginie; Riller, Quentin; Amegnizin, Jean-Louis; Gricourt, Guillaume; Demontant, Vanessa; Fihman, Vincent; Angebault, Cecile; Mahevas, Matthieu; Gaube, Geraldine; Coutte, Laetitia; Pawlotsky, Jean-Michel; Lepeule, Raphael; Rodriguez, Christophe; Woerther, Paul-Louis Share Save External validation of prognostic scores for COVID-19: a multicenter cohort study of patients hospitalized in Greater Paris University HospitalsLombardi, Yannis; Azoyan, Loris; Szychowiak, Piotr; Bellamine, Ali; Lemaitre, Guillaume; Bernaux, Melodie; Daniel, Christel; Leblanc, Judith; Riller, Quentin; Steichen, Olivier Share Save A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditisde Cevins, Camille; Luka, Marine; Smith, Nikaia; Meynier, Sonia; Magerus, Aude; Carbone, Francesco; Garcia-Paredes, Victor; Barnabei, Laura; Batignes, Maxime; Boulle, Alexandre; Stolzenberg, Marie-Claude; Perot, Brieuc P.; Charbit, Bruno; Fali, Tinhinane; Pirabakaran, Vithura; Sorin, Boris; Riller, Quentin; Abdessalem, Ghaith; Beretta, Maxime; Grzelak, Ludivine; Goncalves, Pedro; Di Santo, James P.; Mouquet, Hugo; Schwartz, Olivier; Zarhrate, Mohammed; Parisot, Melanie; Bole-Feysot, Christine; Masson, Cecile; Cagnard, Nicolas; Corneau, Aurelien; Brunaud, Camille; Zhang, Shen-Ying; Casanova, Jean-Laurent; Bader-Meunier, Brigitte; Haroche, Julien; Melki, Isabelle; Lorrot, Mathie; Oualha, Mehdi; Moulin, Florence; Bonnet, Damien; Belhadjer, Zahra; Leruez, Marianne; Allali, Slimane; Gras-Leguen, Christele; de Pontual, Loic; Fischer, Alain; Duffy, Darragh; Rieux-Laucat, Frederic; Toubiana, Julie; Menager, Mickael M. Share Save Share Save Recovery of central memory and naive peripheral T cells in Follicular Lymphoma patients receiving rituximab-chemotherapy based regimenMilcent, B.; Josseaume, N.; Petitprez, F.; Riller, Q.; Amorim, S.; Loiseau, P.; Toubert, A.; Brice, P.; Thieblemont, C.; Teillaud, J-L; Siberil, S. Share Save Highly sensitive methods are required to detect mutations in histiocytosesMelloul, Sarah; Helias-Rodzewicz, Zofia; Cohen-Aubart, Fleur; Charlotte, Frederic; Fraitag, Sylvie; Terrones, Nathalie; Riller, Quentin; Chazal, Thibaud; Heritier, Sebastien; Moreau, Anne; Kambouchner, Marianne; Copin, Marie Christine; Donadieu, Jean; Taly, Valerie; Amoura, Zahir; Haroche, Julien; Emile, Jean Francois Share Save 
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