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Material Type: Artigo
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Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survivalVallée, Tanja C. ; Glasmacher, Jannik S. ; Buchner, Hannes ; Arkwright, Peter D. ; Behrends, Uta ; Bondarenko, Anastasia ; Browning, Michael J. ; Buchbinder, David ; Cattoni, Alessandro ; Chernyshova, Liudmyla ; Ciznar, Peter ; Cole, Theresa ; Czogała, Wojciech ; Dueckers, Gregor ; Edgar, John David M. ; Erbey, Fatih ; Fasth, Anders ; Ferrua, Francesca ; Formankova, Renata ; Gambineri, Eleonora ; Gennery, Andrew R. ; Goldman, Frederick D. ; Gonzalez-Granado, Luis I. ; Heilmann, Carsten ; Heiskanen-Kosma, Tarja ; Juntti, Hanna ; Kainulainen, Leena ; Kanegane, Hirokazu ; Karaca, Neslihan E. ; Kilic, Sara S. ; Klein, Christoph ; Kołtan, Sylwia ; Kondratenko, Irina ; Meyts, Isabelle ; Nasrullayeva, Gulnara M. ; Notarangelo, Lucia D. ; Pasic, Srdjan ; Pellier, Isabelle ; Pignata, Claudio ; Misbah, Siraj ; Schulz, Ansgar ; Segundo, Gesmar R. ; Shcherbina, Anna ; Slatter, Mary ; Sokolic, Robert ; Soler-Palacin, Pere ; Stepensky, Polina ; van Montfrans, Joris M. ; Ryhänen, Samppa ; Wolska-Kuśnierz, Beata ; Ziegler, John B. ; Zhao, Xiaodong ; Aiuti, Alessandro ; Ochs, Hans D. ; Albert, Michael H.Blood, 2024-06, Vol.143 (24), p.2504-2516 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individualsDelmonte, Ottavia M. ; Oguz, Cihan ; Dobbs, Kerry ; Myint-Hpu, Katherine ; Palterer, Boaz ; Abers, Michael S. ; Draper, Deborah ; Truong, Meng ; Kaplan, Ian M. ; Gittelman, Rachel M. ; Zhang, Yu ; Rosen, Lindsey B. ; Snow, Andrew L. ; Dalgard, Clifton L. ; Burbelo, Peter D. ; Imberti, Luisa ; Sottini, Alessandra ; Quiros-Roldan, Eugenia ; Castelli, Francesco ; Rossi, Camillo ; Brugnoni, Duilio ; Biondi, Andrea ; Bettini, Laura Rachele ; D’Angio, Mariella ; Bonfanti, Paolo ; Anderson, Megan V. ; Saracino, Annalisa ; Chironna, Maria ; Di Stefano, Mariantonietta ; Fiore, Jose Ramon ; Santantonio, Teresa ; Castagnoli, Riccardo ; Marseglia, Gian Luigi ; Magliocco, Mary ; Bosticardo, Marita ; Pala, Francesca ; Shaw, Elana ; Matthews, Helen ; Weber, Sarah E. ; Xirasagar, Sandhya ; Barnett, Jason ; Oler, Andrew J. ; Dimitrova, Dimana ; Bergerson, Jenna R.E. ; McDermott, David H. ; Rao, V. Koneti ; Murphy, Philip M. ; Holland, Steven M. ; Lisco, Andrea ; Su, Helen C. ; Lionakis, Michail S. ; Cohen, Jeffrey I. ; Freeman, Alexandra F. ; Snyder, Thomas M. ; Lack, Justin ; Notarangelo, Luigi D.Journal of allergy and clinical immunology, 2024-06, Vol.153 (6), p.1655-1667 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1Oikonomou, Vasileios ; Smith, Grace ; Constantine, Gregory M. ; Schmitt, Monica M. ; Ferré, Elise M.N. ; Alejo, Julie C. ; Riley, Deanna ; Kumar, Dhaneshwar ; Dos Santos Dias, Lucas ; Pechacek, Joseph ; Hadjiyannis, Yannis ; Webb, Taura ; Seifert, Bryce A. ; Ghosh, Rajarshi ; Walkiewicz, Magdalena ; Martin, Daniel ; Besnard, Marine ; Snarr, Brendan D. ; Deljookorani, Shiva ; Lee, Chyi-chia R. ; DiMaggio, Tom ; Barber, Princess ; Rosen, Lindsey B. ; Cheng, Aristine ; Rastegar, Andre ; de Jesus, Adriana A. ; Stoddard, Jennifer ; Kuehn, Hye Sun ; Break, Timothy J. ; Kong, Heidi H. ; Castelo-Soccio, Leslie ; Colton, Ben ; Warner, Blake M. ; Kleiner, David E. ; Quezado, Martha M. ; Davis, Jeremy L. ; Fennelly, Kevin P. ; Olivier, Kenneth N. ; Rosenzweig, Sergio D. ; Suffredini, Anthony F. ; Anderson, Mark S. ; Swidergall, Marc ; Guillonneau, Carole ; Notarangelo, Luigi D. ; Goldbach-Mansky, Raphaela ; Neth, Olaf ; Monserrat-Garcia, Maria Teresa ; Valverde-Fernandez, Justo ; Lucena, Jose Manuel ; Gomez-Gila, Ana Lucia ; Garcia Rojas, Angela ; Seppänen, Mikko R. J. ; Lohi, Jouko ; Hero, Matti ; Laakso, Saila ; Klemetti, Paula ; Lundberg, Vanja ; Ekwall, Olov ; Olbrich, Peter ; Winer, Karen K. ; Afzali, Behdad ; Moutsopoulos, Niki M. ; Holland, Steven M. ; Heller, Theo ; Pittaluga, Stefania ; Lionakis, Michail S.The New England journal of medicine, 2024-05, Vol.390 (20), p.1873-1884 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)Guarina, A ; Farruggia, P ; Mariani, E ; Saracco, P ; Barone, A ; Onofrillo, D ; Cesaro, S ; Angarano, R ; Barberi, W ; Bonanomi, S ; Corti, P ; Crescenzi, B ; Dell'Orso, G ; De Matteo, A ; Giagnuolo, G ; Iori, A P ; Ladogana, S ; Lucarelli, A ; Lupia, M ; Martire, B ; Mastrodicasa, E ; Massaccesi, E ; Arcuri, L ; Giarratana, M C ; Menna, G ; Miano, M ; Notarangelo, L D ; Palazzi, G ; Palmisani, E ; Pestarino, S ; Pierri, F ; Pillon, M ; Ramenghi, U ; Russo, G ; Saettini, F ; Timeus, F ; Verzegnassi, F ; Zecca, M ; Fioredda, F ; Dufour, CBlood cells, molecules, & diseases, 2024-05, Vol.108, p.102860 [Periódico revisado por pares]Texto completo disponível |
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FLT3L governs the development of partially overlapping hematopoietic lineages in humans and miceMomenilandi, Mana ; Lévy, Romain ; Sobrino, Steicy ; Li, Jingwei ; Lagresle-Peyrou, Chantal ; Esmaeilzadeh, Hossein ; Fayand, Antoine ; Le Floc’h, Corentin ; Guérin, Antoine ; Mina, Erika Della ; Shearer, Debra ; Delmonte, Ottavia M. ; Yatim, Ahmad ; Mulder, Kevin ; Mancini, Mathieu ; Rinchai, Darawan ; Denis, Adeline ; Neehus, Anna-Lena ; Balogh, Karla ; Brendle, Sarah ; Rokni-Zadeh, Hassan ; Changi-Ashtiani, Majid ; Seeleuthner, Yoann ; Deswarte, Caroline ; Bessot, Boris ; Cremades, Cassandre ; Materna, Marie ; Cederholm, Axel ; Ogishi, Masato ; Philippot, Quentin ; Beganovic, Omer ; Ackermann, Mania ; Wuyts, Margareta ; Khan, Taushif ; Fouéré, Sébastien ; Herms, Florian ; Chanal, Johan ; Palterer, Boaz ; Bruneau, Julie ; Molina, Thierry J. ; Leclerc-Mercier, Stéphanie ; Prétet, Jean-Luc ; Youssefian, Leila ; Vahidnezhad, Hassan ; Parvaneh, Nima ; Claeys, Kristl G. ; Schrijvers, Rik ; Luka, Marine ; Pérot, Philippe ; Fourgeaud, Jacques ; Nourrisson, Céline ; Poirier, Philippe ; Jouanguy, Emmanuelle ; Boisson-Dupuis, Stéphanie ; Bustamante, Jacinta ; Notarangelo, Luigi D. ; Christensen, Neil ; Landegren, Nils ; Abel, Laurent ; Marr, Nico ; Six, Emmanuelle ; Langlais, David ; Waterboer, Tim ; Ginhoux, Florent ; Ma, Cindy S. ; Tangye, Stuart G. ; Meyts, Isabelle ; Lachmann, Nico ; Hu, Jiafen ; Shahrooei, Mohammad ; Bossuyt, Xavier ; Casanova, Jean-Laurent ; Béziat, VivienCell, 2024-05, Vol.187 (11), p.2817-2837.e31 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyOda, Hirotsugu ; Manthiram, Kalpana ; Chavan, Pallavi Pimpale ; Rieser, Eva ; Veli, Önay ; Kaya, Öykü ; Rauch, Charles ; Nakabo, Shuichiro ; Kuehn, Hye Sun ; Swart, Mariël ; Wang, Yanli ; Çelik, Nisa Ilgim ; Molitor, Anne ; Ziaee, Vahid ; Movahedi, Nasim ; Shahrooei, Mohammad ; Parvaneh, Nima ; Alipour-Olyei, Nasrin ; Carapito, Raphael ; Xu, Qin ; Preite, Silvia ; Beck, David B ; Chae, Jae Jin ; Nehrebecky, Michele ; Ombrello, Amanda K ; Hoffmann, Patrycja ; Romeo, Tina ; Deuitch, Natalie T ; Matthíasardóttir, Brynja ; Mullikin, James ; Komarow, Hirsh ; Stoddard, Jennifer ; Niemela, Julie ; Dobbs, Kerry ; Sweeney, Colin L ; Anderton, Holly ; Lawlor, Kate E ; Yoshitomi, Hiroyuki ; Yang, Dan ; Boehm, Manfred ; Davis, Jeremy ; Mudd, Pamela ; Randazzo, Davide ; Tsai, Wanxia Li ; Gadina, Massimo ; Kaplan, Mariana J ; Toguchida, Junya ; Mayer, Christian T ; Rosenzweig, Sergio D ; Notarangelo, Luigi D ; Iwai, Kazuhiro ; Silke, John ; Schwartzberg, Pamela L ; Boisson, Bertrand ; Casanova, Jean-Laurent ; Bahram, Seiamak ; Rao, Anand Prahalad ; Peltzer, Nieves ; Walczak, Henning ; Lalaoui, Najoua ; Aksentijevich, Ivona ; Kastner, Daniel LNature immunology, 2024-05, Vol.25 (5), p.764-777 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium studyGrunebaum, Eyal ; Arnold, Danielle E. ; Logan, Brent ; Parikh, Suhag ; Marsh, Rebecca A. ; Griffith, Linda M. ; Mallhi, Kanwaldeep ; Chellapandian, Deepak ; Lim, Stephanie Si ; Deal, Christin L. ; Kapoor, Neena ; Murguía-Favela, Luis ; Falcone, Emilia Liana ; Prasad, Vinod K. ; Touzot, Fabien ; Bleesing, Jack J. ; Chandrakasan, Shanmuganathan ; Heimall, Jennifer R. ; Bednarski, Jeffrey J. ; Broglie, Larisa A. ; Chong, Hey Jin ; Kapadia, Malika ; Prockop, Susan ; Dávila Saldaña, Blachy J. ; Schaefer, Edo ; Bauchat, Andrea L. ; Teira, Pierre ; Chandra, Sharat ; Parta, Mark ; Cowan, Morton J. ; Dvorak, Christopher C. ; Haddad, Elie ; Kohn, Donald B. ; Notarangelo, Luigi D. ; Pai, Sung-Yun ; Puck, Jennifer M. ; Pulsipher, Michael A. ; Torgerson, Troy R. ; Malech, Harry L. ; Kang, Elizabeth M. ; Leiding, Jennifer W.Journal of allergy and clinical immunology, 2024-05, Vol.153 (5), p.1423-1431.e2 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiencyPavel-Dinu, Mara ; Gardner, Cameron L. ; Nakauchi, Yusuke ; Kawai, Tomoki ; Delmonte, Ottavia M. ; Palterer, Boaz ; Bosticardo, Marita ; Pala, Francesca ; Viel, Sebastien ; Malech, Harry L. ; Ghanim, Hana Y. ; Bode, Nicole M. ; Kurgan, Gavin L. ; Detweiler, Angela M. ; Vakulskas, Christopher A. ; Neff, Norma F. ; Sheikali, Adam ; Menezes, Sherah T. ; Chrobok, Jade ; Hernández González, Elaine M. ; Majeti, Ravindra ; Notarangelo, Luigi D. ; Porteus, Matthew H.Blood advances, 2024-04, Vol.8 (7), p.1820-1833 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke systemMunaretto, V ; Corti, P ; Bertoni, E ; Tripodi, S I ; Guerzoni, M E ; Cesaro, S ; Arcioni, F ; Piccolo, C ; Mina, T ; Zecca, M ; Cuzzubbo, D ; Casale, M ; Palazzi, G ; Notarangelo, L D ; Masera, N ; Samperi, P ; Perrotta, S ; Russo, G ; Sainati, L ; Colombatti, RBritish journal of haematology, 2024-03, Vol.204 (3), p.1061-1066 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Exonic knock-out and knock-in gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiencyCastiello, Maria Carmina ; Brandas, Chiara ; Ferrari, Samuele ; Porcellini, Simona ; Sacchetti, Nicolò ; Canarutto, Daniele ; Draghici, Elena ; Merelli, Ivan ; Barcella, Matteo ; Pelosi, Gabriele ; Vavassori, Valentina ; Varesi, Angelica ; Jacob, Aurelien ; Scala, Serena ; Ricci, Luca Basso ; Paulis, Marianna ; Strina, Dario ; Verniere, Martina Di ; Sergi, Lucia Sergi ; Serafini, Marta ; Holland, Steven M. ; Bergerson, Jenna R.E. ; De Ravin, Suk See ; Malech, Harry L. ; Pala, Francesca ; Bosticardo, Marita ; Brombin, Chiara ; Cugnata, Federica ; Calzoni, Enrica ; Crooks, Gay M. ; Notarangelo, Luigi D. ; Genovese, Pietro ; Naldini, Luigi ; Villa, AnnaScience translational medicine, 2024-02, Vol.16 (733), p.eadh8162-eadh8162 [Periódico revisado por pares]Texto completo disponível |