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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SaveSomatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyBenavides-Nieto, Marta; Adam, Frederic; Martin, Emmanuel; Boussard, Charlotte; Lagresle-Peyrou, Chantal; Callebaut, Isabelle; Kauskot, Alexandre; Reperant, Christelle; Feng, Miao; Bordet, Jean-Claude; Castelle, Martin; Morelle, Guillaume; Brouzes, Chantal; Zarhrate, Mohammed; Panikulam, Patricia; Lambert, Nathalie; Picard, Capucine; Bodet, Damien; Rouger-Gaudichon, Jeremie; Revy, Patrick; de Villartay, Jean-Pierre; Moshous, Despina 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 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 Cardiac valve involvement inADAR-related type I interferonopathyCrow, Yanick; Keshavan, Nandaki; Barbet, Jacques Patrick; Bercu, Geanina; Bondet, Vincent; Boussard, Charlotte; Dedieu, Nathalie; Duffy, Darragh; Hully, Marie; Giardini, Alessandro; Gitiaux, Cyril; Rice, Gillian Inara; Seabra, Luis; Bader-Meunier, Brigitte; Rahman, Shamima Share Save Share Save 
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