Not logged inMutations 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 .png)
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SaveHETEROZYGOUS 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 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 Risk of scleroderma according to the type of immune checkpoint inhibitorsTerrier, Benjamin; Humbert, Sebastien; Preta, Laure-Helene; Delage, Laure; Razanamahery, Jerome; Laurent-Roussel, Sara; Mestiri, Raphaele; Beaudeau, Lauren; Legendre, Paul; Goupil, Francois; Hadjadj, Jerome; Stolzenberg, Marie-Claude; Treluyer, Jean-Marc; Westeel, Virginie; Valnet-Rabier, Marie-Blanche; Wislez, Marie; Mouthon, Luc; Chouchana, Laurent Share Save Share Save 
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