Chrono-Nutrition: Circadian Rhythm and Personalized Nutrition von Franzago, Marica, Alessandrelli, Elisa, Notarangelo, Stefania, Stuppia, Liborio, Vitacolonna, Ester

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Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies von Angilletta, Ilaria, Ferrante, Rossella, Giansante, Roberta, Lombardi, Lucia, Babore, Alessandra, Dell'Elice, Anastasia, Alessandrelli, Elisa, Notarangelo, Stefania, Ranaudo, Marianna, Palmarini, Claudia, De Laurenzi, Vincenzo, Stuppia, Liborio, Rossi, Claudia

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Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings von Pala, Francesca, Corsino, Cristina, Calzoni, Enrica, Villa, Anna, Pittaluga, Stefania, Palchaudhuri, Rahul, Bosticardo, Marita, Notarangelo, Luigi D

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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP von Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M, Massaad, Michel J, Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D, Geha, Raif S, Giliani, Silvia

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Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 von Sun Kuehn, Hye, Ouyang, Weiming, Lo, Bernice, Deenick, Elissa K., Niemela, Julie E., Avery, Danielle T., Schickel, Jean-Nicolas, Tran, Dat Q., Stoddard, Jennifer, Zhang, Yu, Frucht, David M., Dumitriu, Bogdan, Scheinberg, Phillip, Folio, Les R., Frein, Cathleen A., Price, Susan, Koh, Christopher, Heller, Theo, Seroogy, Christine M., Huttenlocher, Anna, Rao, V. Koneti, Su, Helen C., Kleiner, David, Notarangelo, Luigi D., Rampertaap, Yajesh, Olivier, Kenneth N., McElwee, Joshua, Hughes, Jason, Pittaluga, Stefania, Oliveira, Joao B., Meffre, Eric, Fleisher, Thomas A., Holland, Steven M., Lenardo, Michael J., Tangye, Stuart G., Uzel, Gulbu

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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling von Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.

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Aberrant type 1 immunity drives susceptibility to mucosal fungal infections von Break, Timothy J, Oikonomou, Vasileios, Dutzan, Nicolas, Desai, Jigar V, Swidergall, Marc, Freiwald, Tilo, Chauss, Daniel, Harrison, Oliver J, Alejo, Julie, Williams, Drake W, Pittaluga, Stefania, Lee, Chyi-Chia R, Bouladoux, Nicolas, Swamydas, Muthulekha, Hoffman, Kevin W, Greenwell-Wild, Teresa, Bruno, Vincent M, Rosen, Lindsey B, Lwin, Wint, Renteria, Andy, Pontejo, Sergio M, Shannon, John P, Myles, Ian A, Olbrich, Peter, Ferré, Elise M N, Schmitt, Monica, Martin, Daniel, Barber, Daniel L, Solis, Norma V, Notarangelo, Luigi D, Serreze, David V, Matsumoto, Mitsuru, Hickman, Heather D, Murphy, Philip M, Anderson, Mark S, Lim, Jean K, Holland, Steven M, Filler, Scott G, Afzali, Behdad, Belkaid, Yasmine, Moutsopoulos, Niki M, Lionakis, Michail S

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Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity von Preite, Silvia, Cannons, Jennifer L., Radtke, Andrea J., Vujkovic-Cvijin, Ivan, Gomez-Rodriguez, Julio, Volpi, Stefano, Huang, Bonnie, Cheng, Jun, Collins, Nicholas, Reilley, Julie, Handon, Robin, Dobbs, Kerry, Huq, Lutfi, Raman, Indu, Zhu, Chengsong, Li, Quan-Zhen, Li, Ming O., Pittaluga, Stefania, Uzel, Gulbu, Notarangelo, Luigi D., Belkaid, Yasmine, Germain, Ronald N., Schwartzberg, Pamela L.

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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency von Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, Aiuti, Alessandro

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IL6/STAT3 axis mediates resistance to BRAF inhibitors in thyroid carcinoma cells von Notarangelo, Tiziana, Sisinni, Lorenza, Trino, Stefania, Calice, Giovanni, Simeon, Vittorio, Landriscina, Matteo

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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias von Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD

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Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination von Cirillo, Emilia, Esposito, Ciro, Giardino, Giuliana, Azan, Gaetano, Fecarotta, Simona, Pittaluga, Stefania, Ruggiero, Lucia, Barretta, Ferdinando, Frisso, Giulia, Notarangelo, Luigi Daniele, Pignata, Claudio

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Hypomorphic Rag mutations can cause destructive midline granulomatous disease von De Ravin, Suk See, Cowen, Edward W., Zarember, Kol A., Whiting-Theobald, Narda L., Kuhns, Douglas B., Sandler, Netanya G., Douek, Daniel C., Pittaluga, Stefania, Poliani, Pietro L., Lee, Yu Nee, Notarangelo, Luigi D., Wang, Lei, Alt, Frederick W., Kang, Elizabeth M., Milner, Joshua D., Niemela, Julie E., Fontana-Penn, Mary, Sinal, Sara H., Malech, Harry L.

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Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A Case von Vannella, Kevin M, Oguz, Cihan, Stein, Sydney R, Pittaluga, Stefania, Dikoglu, Esra, Kanwal, Arjun, Ramelli, Sabrina C, Briese, Thomas, Su, Ling, Wu, Xiaolin, Ramos-Benitez, Marcos J, Perez-Valencia, Luis J, Babyak, Ashley, Cha, Nu Ri, Chung, Joon-Yong, Ylaya, Kris, Madathil, Ronson J, Saharia, Kapil K, Scalea, Thomas M, Tran, Quincy K, Herr, Daniel L, Kleiner, David E, Hewitt, Stephen M, Notarangelo, Luigi D, Grazioli, Alison, Chertow, Daniel S

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Decellularized extracellular matrix-based scaffold and hypoxic priming: A promising combination to improve the phenotype of degenerate intervertebral disc cells von Penolazzi, Letizia, Lambertini, Elisabetta, D'Agostino, Stefania, Pozzobon, Michela, Notarangelo, Maria Pina, Greco, Pantaleo, De Bonis, Pasquale, Nastruzzi, Claudio, Piva, Roberta

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Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells von Csomos, Krisztian, Ujhazi, Boglarka, Blazso, Peter, Herrera, Jose L., Tipton, Christopher M., Kawai, Tomoki, Gordon, Sumai, Ellison, Maryssa, Wu, Kevin, Stowell, Matthew, Haynes, Lauren, Cruz, Rachel, Zakota, Bence, Nguyen, Johnny, Altrich, Michelle, Geier, Christoph B., Sharapova, Svetlana, Dasso, Joseph F., Leiding, Jennifer W., Smith, Grace, Al-Herz, Waleed, de Barros Dorna, Mayra, Fadugba, Olajumoke, Fronkova, Eva, Kanderova, Veronika, Svaton, Michael, Henrickson, Sarah E., Hernandez, Joseph D., Kuijpers, Taco, Kandilarova, Snezhina Mihailova, Naumova, Elizaveta, Milota, Tomas, Sediva, Anna, Moshous, Despina, Neven, Benedicte, Saco, Tara, Sargur, Ravishankar, Savic, Sinisa, Sleasman, John, Sunkersett, Gauri, Ward, Brant R., Komatsu, Masanobu, Pittaluga, Stefania, Kumanovics, Attila, Butte, Manish J., Cancro, Michael P., Pillai, Shiv, Meffre, Eric, Notarangelo, Luigi D., Walter, Jolan E.

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Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multi-center nation-wid... von Casale, Maddalena, Forni, Gian Luca, Cassinerio, Elena, Pasquali, Daniela, Origa, Raffaella, Serra, Marilena, Campisi, Saveria, Peluso, Angelo, Renni, Roberta, Cattoni, Alessandro, De Michele, Elisa, Allò, Massimo, Poggi, Maurizio, Ferrara, Francesca, Di Concilio, Rosanna, Sportelli, Filomena, Quarta, Antonella, Putti, Maria Caterina, Notarangelo, Lucia Dora, Sau, Antonella, Ladogana, Saverio, Tartaglione, Immacolata, Picariello, Stefania, Marcon, Alessia, Sturiale, Patrizia, Roberti, Domenico, Lazzarino, Antonio Ivan, Perrotta, Silverio

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Adipose-Derived Stromal Cell Conditioned Medium on Bone Remodeling: Insights from a 3D Osteoblast–Osteoclast Co-Culture Model von Della Morte, Elena, Notarangelo, Maria Pina, Niada, Stefania, Giannasi, Chiara, Fortuna, Federica, Cadelano, Francesca, Lambertini, Elisabetta, Piva, Roberta, Brini, Anna Teresa, Penolazzi, Letizia

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A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation von Consiglieri, Giulia, Ferrua, Francesca, Aiuti, Alessandro, Cicalese, Maria Pia

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B-cell development and functions and therapeutic options in adenosine deaminase–deficient patients von Brigida, Immacolata, PhD, Sauer, Aisha V., PhD, Ferrua, Francesca, MD, Giannelli, Stefania, PhD, Scaramuzza, Samantha, PhD, Pistoia, Valentina, MSc, Castiello, Maria Carmina, PhD, Barendregt, Barbara H., BSc, Cicalese, Maria Pia, MD, Casiraghi, Miriam, RCN, Brombin, Chiara, PhD, Puck, Jennifer, MD, Müller, Klaus, MD, PhD, Notarangelo, Lucia Dora, MD, Montin, Davide, MD, van Montfrans, Joris M., MD, PhD, Roncarolo, Maria Grazia, MD, Traggiai, Elisabetta, PhD, van Dongen, Jacques J.M., MD, PhD, van der Burg, Mirjam, PhD, Aiuti, Alessandro, MD, PhD

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