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Allogeneic haematopoietic stem cell transplantation for severe Still's disease: a retrospective report of three paediatric patients 异基因造血干细胞移植治疗严重Still病：三例儿科患者的回顾性报告 Schmutz, Muriel; Cognard, Jade; Hadchouel, Alice; Berteloot, Laureline; Hentgen, Veronique; Pietrement, Christine; Eveillard, Laurye-Anne; Bastard, Paul; Castelle, Martin; Chbihi, Marwa; Levy, Romain; Welfringer-Morin, Anne; Pouletty, Marie; Quartier, Pierre; Neven, Benedicte; Moshous, Despina; Fournier, Benjamin; Fremond, Marie Louise 分享 收藏
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Cavadias, Iphigenie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloe; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-dit-Maire, Pierre; Hadj-Rabia, Smail; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valerie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Veronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina 分享 收藏
Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study Guillemin, Claire; Bellon, Nathalia; Jachiet, Marie; Barbarot, Sebastien; Bourrat, Emmanuelle; Chiaverini, Christine; Cougoul, Pierre; Ebbo, Mikael; Herber, Mathilde; Hubiche, Thomas; Mallet, Stephanie; Tauber, Marie; Beziat, Vivien; Castelle, Martin; Du Thanh, Aurlie; Farhi, Johathan; Fieschi, Claire; Fournier, Benjamin; Gourguechon, Clement; Guiddir, Tamazoust; Lipsker, Dan; Raison-Peyron, Nadia; Garcelon, Nicolas; Cheminant, Morgane; Suarez, Felipe; Hermine, Olivier; Blanche, Stephane; Moshous, Despina; Mahlaoui, Nizar; Neven, Benedicte; Bodemer, Christine; Levy, Romain; Polivka, Laura 分享 收藏
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation Doye, Anne; Chaintreuil, Paul; Lagresle-Peyrou, Chantal; Batistic, Ludovic; Marion, Valentine; Munro, Patrick; Loubatier, Celine; Chirara, Rayana; Sorel, Natal; Bessot, Boris; Bronnec, Pauline; Contenti, Julie; Courjon, Johan; Giordanengo, Valerie; Jacquel, Arnaud; Barbry, Pascal; Couralet, Marie; Aladjidi, Nathalie; Fischer, Alain; Cavazzana, Marina; Mallebranche, Coralie; Visvikis, Orane; Kracker, Sven; Moshous, Despina; Verhoeyen, Els; Boyer, Laurent 分享 收藏
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 分享 收藏
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency RAG缺乏症患者自身免疫性溶血性贫血的临床、免疫学特征、治疗和结局 Wang, Chen; Sun, Bijun; Wu, Kevin; Farmer, Jocelyn R.; Ujhazi, Boglarka; Geier, Christoph B.; Gordon, Sumai; Westermann-Clark, Emma; Savic, Sinisa; Secord, Elizabeth; Sargur, Ravishankar; Chen, Karin; Jin, Jay J.; Dutmer, Cullen M.; Kanariou, Maria G.; Adeli, Mehdi; Palma, Paolo; Bon, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S.; Notarangelo, Luigi D.; Miano, Maurizio; Buchbinder, David K.; Csomos, Krisztian; Wang, Wenjie; Wang, Ji-Yang; Wang, Xiaochuan; Walter, Jolan E. 分享 收藏
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 分享 收藏
Downregulation of V-ATPase V0 Sector Induces phy Independently of Apical Traf-ficking in the Mammalian Intestine Bidaud-Meynard, Aurelien; Bourdais, Anne; Nicolle, Ophelie; Duclos, Maela; Saleh, Jad; Ruemmele, Frank M.; Farin, Henner F.; Delacour, Delphine; Moshous, Despina; Michaux, Gregoire 分享 收藏
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity Cesar, Thibaut; Le, Minh P.; Klifa, Roman; Castelle, Martin; Fournier, Benjamin; Levy, Romain; Chbihi, Marwa; Courteille, Virginie; Moshous, Despina; Blanche, Stephane; Alligon, Mickael; Leruez-Ville, Marianne; Peytavin, Gilles; Frange, Pierre; Neven, Benedicte 分享 收藏
Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement Gajardo, Tania; Bernard, Mathilde; Lo, Marie; Turck, Elisa; Leveau, Claire; EI-Daher, Marie-Therese; Deslys, Alexandre; Panikulam, Patricia; Menche, Constantin; Kurowska, Mathieu; Le Lay, Gregoire; Barbier, Lucie; Moshous, Despina; Neven, Benedicte; Farin, Henner F.; Fischer, Alain; Menasche, Gael; de Saint Basile, Genevieve; Vargas, Pablo; Sepulveda, Fernando E. 分享 收藏
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity 活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较 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 分享 收藏
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 分享 收藏
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients Riller, 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 分享 收藏
JAK Inhibition in Aicardi-Goutieres Syndrome: a Monocentric Multidisciplinary Real-World Approach Study Fremond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Remi; Levy, Romain; Aubart, Melodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugenie; Al Adba, Buthaina; Couderc, Sophie; D' Almeida, Celine; Berat, Claire-Marine; Durrleman, Chloe; Espil, Caroline; Lambert, Laetitia; Meni, Cecile; Perivier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I.; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stephane; Desguerre, Isabelle; Crow, Yanick J.; Neven, Benedicte 分享 收藏
Molecular and clinicopathologic characterization of pediatric histiocytoses Helias-Rodzewicz, Zofia; Donadieu, Jean; Terrones, Nathalie; Barkaoui, Mohamed-Aziz; Lambilliotte, Anne; Moshous, Despina; Thomas, Caroline; Azarnoush, Saba; Pasquet, Marlene; Mansuy, Ludovic; Aladjidi, Nathalie; Jeziorski, Eric; Marec-Berard, Perrine; Gilibert-Yvert, Marion; Spiegel, Alexandra; Saultier, Paul; Pellier, Isabelle; Pagnier, Anne; Pertuisel, Sophie; Poiree, Maryline; Bodet, Damien; Millot, Frederic; Isfan, Florentina; Stephan, Jean-Louis; Leruste, Amaury; Rigaud, Charlotte; Filhon, Bruno; Carausu, Liana; Reguerre, Yves; Kieffer, Isabelle; Brichard, Benedicte; Ben Jannet, Rim; Bakari, Mariama; Idbaih, Ahmed; Bodemer, Christine; Cohen-Aubart, Fleur; Haroche, Julien; Tazi, Abdellatif; Boudjemaa, Sabah; Fraitag, Sylvie; Emile, Jean-Francois; Heritier, Sebastien 分享 收藏
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency Fornes, Oriol; Jia, Alicia; Kuehn, Hye Sun; Min, Qing; Pannicke, Ulrich; Schleussner, Nikolai; Thouenon, Romane; Yu, Zhijia; Astbury, Maria de los Angeles; Biggs, Catherine M.; Galicchio, Miguel; Garcia-Campos, Jorge Alberto; Gismondi, Silvina; Villarreal, Guadalupe Gonzalez; Hildebrandt, Kyla J.; Honig, Manfred; Hou, Jia; Moshous, Despina; Pittaluga, Stefania; Qian, Xiaowen; Rozmus, Jacob; Schulz, Ansgar S.; Staines-Boone, Aide Tamara; Sun, Bijun; Sun, Jinqiao; Uwe, Schauer; Venegas-Montoya, Edna; Wang, Wenjie; Wang, Xiaochuan; Ying, Wenjing; Zhai, Xiaowen; Zhou, Qinhua; Akalin, Altuna; Andre, Isabelle; Barth, Thomas F. E.; Baumann, Bernd; Brustle, Anne; Burgio, Gaetan; Bustamante, Jacinta C.; Casanova, Jean-Laurent; Casarotto, Marco G.; Cavazzana, Marina; Chentout, Loic; Cockburn, Ian A.; Costanza, Mariantonia; Cui, Chaoqun; Daumke, Oliver; Del Bel, Kate L.; Eibel, Hermann; Feng, Xiaoqian; Franke, Vedran; Gebhardt, J. Christof M.; Goetz, Andrea; Grunwald, Stephan; Hoareau, Benedicte; Hughes, Timothy R.; Jacobsens, Eva-Maria; Janz, Martin; Jalma, Arttu; Lagresle-Peyrou, Chantal; Lai, Nannan; Li, Yaxuan; Lin, Susan; Lu, Henry Y.; Lugo-Reyes, Saul O.; Meng, Xin; Moeller, Pete; Moreno-Corona, Nidia; Niemela, Julie E.; Novakovsky, Gherman; Perez-Caraballo, Jareb J.; Picard, Capucine; Poggi, Lucie; Puig-Lombardi, Maria-Emilia; Randallr, Katrina L.; Reisser, Anja; Schmitt, Yohann; Seneviratne, Sandali; Sharma, Mehul; Stoddard, Jennifer; Sundararaj, Srinivasan; Sutton, Harry; Tran, Linh Q.; Wang, Ying; Wasserman, Wyeth W.; Wen, Zichao; Winkler, Wiebke; Xiong, Ermeng; Yang, Ally W. H.; Yu, Meiping; Zhang, Lumin; Zhang, Hai; Zhao, Qian; Zhen, Xin; Enders, Anselm; Kracker, Sven; Martinez-Barricarte, Ruben; Mathas, Stephan; Rosenzweig, Sergio D.; Schwarz, Klaus; Turvey, Stuart E.; Wang, Ji-Yang 分享 收藏
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