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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
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework Nieto-Patlan, Alejandro; Ross, Justyne; Mohan, Shruthi; Paczosa, Michelle K.; Soliman, Rasha; Sarmento, Olga; Aliu, Ermal; Thiyagarajan, Lavvina; Chandra, Anita; Picard, Capucine; Warnatz, Klaus; Jolles, Stephen; Lesmana, Harry; Maglione, Paul J.; Platt, Craig D.; Sediva, Anna; Sullivan, Kathleen E.; Zhang, Kejian; Raval, Forum; Tangye, Stuart G.; Abraham, Roshini S. Share Save
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency Brakta, Charlyne; Tabet, Anne-Claude; Puel, Mathilde; Pacault, Mathilde; Stolzenberg, Marie-Claude; Goudet, Claire; Merger, Marguerite; Reumaux, Heloise; Lambert, Nathalie; Alioua, Najiba; Malan, Valerie; Hanein, Sylvain; Dupin-Deguine, Delphine; Treiner, Emmanuel; Lefevre, Guillaume; Farhat, Meryem-Maud; Luca, Luminita Elena; Hureaux, Marguerite; Li, Hailun; Chelloug, Nora; Dehak, Rabha; Boussion, Simon; Ouachee-Chardin, Marie; Schleinitz, Nicolas; Abou Chahla, Wadih; Barlogis, Vincent; Vely, Frederic; Oksenhendler, Eric; Quartier, Pierre; Pasquet, Marlene; Suarez, Felipe; Bustamante, Jacinta; Neven, Benedicte; Picard, Capucine; Rieux-Laucat, Frederic; Levy, Jonathan; Rosain, Jeremie Share Save
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent Share Save
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency Benavides-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 SYNDROME Riller, 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
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome Consonni, Filippo; Moreno, Solange; Colell, Blanca Vinuales; Stolzenberg, Marie-Claude; Fernandes, Alicia; Parisot, Melanie; Masson, Cecile; Neveux, Nathalie; Rosain, Jeremie; Bamberger, Sarah; Vigue, Marie-Gabrielle; Malphettes, Marion; Quartier, Pierre; Picard, Capucine; Rieux-Laucat, Frederic; Magerus, Aude Share Save
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency Liquidano-Perez, Eduardo; Maza-Ramos, Gibert; Arias, Bethy Alexandra Perez; Reyes, Saul Oswaldo Lugo; Arevalo, Tania Barragan; Solorzano-Morales, Sara Alejandra; Montoya, Edna Venegas; Staines-Boone, Aide Tamara; Cotaya, Rogelio Guzman; Okada, Satoshi; Picard, Capucine; Patin, Etienne; Ramirez-Uribe, Nideshda; Bustamante-Ogando, Juan Carlos; Scheffler-Mendoza, Selma Cecilia; Yamazaki-Nakashimada, Marco Antonio; Saez-de-Ocariz, Marimar; Padilla, Sara Elva Espinosa; Gonzalez-Serrano, Maria Edith Share Save
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders Bertrand, Alexis; Ba, Ibrahima; Kermasson, Laetitia; Pirabakaran, Vithura; Chable, Noemie; Lainey, Elodie; Menard, Christelle; Kallel, Faten; Picard, Capucine; Hadiji, Sondes; Coolen-Allou, Nathalie; Blanchard, Elodie; de Villartay, Jean-Pierre; Moshous, Despina; Roelens, Marie; Callebaut, Isabelle; Kannengiesser, Caroline; Revy, Patrick Share Save
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome Pelle, 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
Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation Frans, Glynis; Michiels, Birthe; Picard, Capucine; Ampofo, Louanne; Raes, Marc; Toelen, Jaan; Bucciol, Giorgia; ten Bosch, Jutte van der Werff; Moens, Leen; Wuyts, Greet; Dillaerts, Doreen; Casanova, Jean-Laurent; Schrijvers, Rik; Meyts, Isabelle; Bossuyt, Xavier Share Save
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, MattheW S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, Peter; Coulter, Tanya I.; D'Aveni, Maud; Ekwall, Olov; Eric, Zelimir; Eren, Efrem; Fasth, Anders; Frange, Pierre; Fournier, Benjamin; Garcia-Prat, Marina; Gardembas, Martine; Geier, Christoph; Ghosh, Sujal; Goda, Vera; Hammarstrom, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, Renate; Jeziorski, Eric; Levy, Romain; Le Guenno, Guillaume; Lefevre, Guillaume; Lougaris, Vassilios; Marzollo, Antonio; Mahlaoui, Nizar; Malphettes, Marion; Meinhardt, Andrea; Merlin, Etienne; Meyts, Isabelle; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neubert, Jennifer; Neven, Benedicte; Nieters, Alexandra; Nove-Josserand, Raphaele; Oksenhendler, Eric; Ozen, Ahmet; Olbrich, Peter; Perlat, Antoinette; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pacillo, Lucia; Parra-Martinez, Alba; Paschenko, Olga; Pellier, Isabelle; Sefer, Asena Pinar; Plebani, Alessandro; Plantaz, Dominique; Prader, Seraina; Raffray, Loic; Ritterbusch, Henrike; Riviere, Jacques G.; Rivalta, Beatrice; Rusch, Stephan; Sakovich, Inga; Savic, Sinisa; Scheible, Raphael; Schleinitz, Nicolas; Schuetz, Catharina; Schulz, Ansgar; Sediva, Anna; Semeraro, Michaela; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary A.; Sogkas, Georgios; Soler-Palacin, Pere; Speckmann, Carsten; Stephan, Jean-Louis; Suarez, Felipe; Tommasini, Alberto; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan Share Save
Successful treatment of JAK1-associated inflammatory disease Fayand, Antoine; Hentgen, Veronique; Posseme, Celine; Lacout, Carole; Picard, Capucine; Moguelet, Philippe; Cescato, Margaux; Sbeih, Nabiha; Moreau, Thomas R. J.; Zhu, Yixiang Y. J.; Charuel, Jean-Luc; Corneau, Aurelien; Deibener-Kaminsky, Joelle; Dupuy, Stephanie; Fusaro, Mathieu; Hoareau, Benedicte; Hovnanian, Alain; Langlois, Vincent; Le Corre, Laurent; Maciel, Thiago T.; Miskinyte, Snaigune; Miyara, Makoto; Moulinet, Thomas; Perret, Magali; Schuhmacher, Marie Helene; Rignault-Bricard, Rachel; Viel, Sebastien; Vinit, Angelique; Soria, Angele; Duffy, Darragh; Launay, Jean-Marie; Callebert, Jacques; Herbeuval, Jean Philippe; Rodero, Mathieu P.; Georgin-Lavialle, Sophie Share Save
Impact of Graft Function on Health Status and Quality of Life in Very Long-Term Survivors Who Received an HSCT for Inborn Errors of Immunity, a Prospective Study of the CEREDIH Petit, Audrey; Neven, Benedicte; Min, Victoria; Mahlaoui, Nizar; Moshous, Despina; Castelle, Martin; Allouche, Maya; Sterin, Arthur; Visentin, Sandrine; Saultier, Paul; Boucekine, Mohamed; Shawket, Alaa Mustafa; Picard, Capucine; Auquier, Pascal; Michel, Gerard; Fischer, Alain; Barlogis, Vincent Share Save
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