1,368 results on '"Aiuti, Alessandro"'
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2. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Tayoun, Ahmad Abou, Aiuti, Alessandro, Darazam, Ilad Alavi, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., Zein, Loubna El, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Akcan, Ozge Metin, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, and Cobat, Aurélie
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- 2024
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3. Biological Properties of Hematopoietic Stem Cells: Scientific Basis for Hematopoietic Cell Transplantation
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Aiuti, Alessandro, Scala, Serena, Chabannon, Christian, Sureda, Anna, editor, Corbacioglu, Selim, editor, Greco, Raffaella, editor, Kröger, Nicolaus, editor, and Carreras, Enric, editor
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- 2024
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4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M, Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T, Bustos, Ingrid G, Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E, Delmonte, Ottavia M, El Zein, Loubna, Flores, Carlos, Gregersen, Peter K, Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E, Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G, Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M, Baris-Feldman, Hagit, Butte, Manish J, Constantinescu, Stefan N, Cooper, Megan A, Dalgard, Clifton L, Fellay, Jacques, Heath, James R, Lau, Yu-Lung, Lifton, Richard P, Maniatis, Tom, Mogensen, Trine H, von Bernuth, Horst, Lermine, Alban, and Vidaud, Michel
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Clinical Research ,Infectious Diseases ,Pneumonia & Influenza ,Genetics ,Human Genome ,Prevention ,2.1 Biological and endogenous factors ,Aetiology ,Humans ,Young Adult ,Adult ,Middle Aged ,COVID-19 ,SARS-CoV-2 ,Toll-Like Receptor 3 ,Toll-Like Receptor 7 ,Interferon Type I ,Autoantibodies ,COVID Human Genetic Effort ,COVIDeF Study Group ,French COVID Cohort Study Group ,CoV-Contact Cohort ,COVID-STORM Clinicians ,COVID Clinicians ,Orchestra Working Group ,Amsterdam UMC Covid-19 Biobank ,NIAID-USUHS COVID Study Group ,Immunity ,Rare variants ,Type I interferon ,Clinical Sciences - Abstract
BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P = 1.1 × 10-4) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR = 3.70[95%CI 1.3-8.2], P = 2.1 × 10-4). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR = 19.65[95%CI 2.1-2635.4], P = 3.4 × 10-3), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR = 4.40[9%CI 2.3-8.4], P = 7.7 × 10-8). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD] = 43.3 [20.3] years) than the other patients (56.0 [17.3] years; P = 1.68 × 10-5).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.
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- 2023
5. Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
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Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Rancoita, Paola M. V., Gabaldo, Michela, Dionisio, Francesca, Giannelli, Stefania, Salerio, Federica Andrea, Ferrua, Francesca, Tucci, Francesca, Calbi, Valeria, Gallo, Vera, Recupero, Salvatore, Consiglieri, Giulia, Pajno, Roberta, Sambuco, Maria, Priolo, Alessio, Ferri, Chiara, Garella, Vittoria, Monti, Ilaria, Silvani, Paolo, Darin, Silvia, Casiraghi, Miriam, Corti, Ambra, Zancan, Stefano, Levi, Margherita, Cesana, Daniela, Carlucci, Filippo, Pituch-Noworolska, Anna, AbdElaziz, Dalia, Baumann, Ulrich, Finocchi, Andrea, Cancrini, Caterina, Ladogana, Saverio, Meinhardt, Andrea, Meyts, Isabelle, Montin, Davide, Notarangelo, Lucia Dora, Porta, Fulvio, Pasquet, Marlène, Speckmann, Carsten, Stepensky, Polina, Tommasini, Alberto, Rabusin, Marco, Karakas, Zeynep, Galicchio, Miguel, Leonardi, Lucia, Duse, Marzia, Guner, Sukru Nail, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Aiuti, Alessandro, and Cicalese, Maria Pia
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- 2024
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6. A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB
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Crippa, Stefania, Alberti, Gaia, Passerini, Laura, Savoia, Evelyn Oliva, Mancino, Marilena, De Ponti, Giada, Santi, Ludovica, Berti, Margherita, Testa, Marialuisa, Hernandez, Raisa Jofra, Quaranta, Pamela, Ceriotti, Selene, Visigalli, Ilaria, Morrone, Amelia, Paoli, Antonella, Forni, Claudia, Scala, Serena, Degano, Massimo, Staiano, Leopoldo, Gregori, Silvia, Aiuti, Alessandro, and Bernardo, Maria Ester
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- 2024
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7. Transcriptomic analysis of BM-MSCs identified EGR1 as a transcription factor to fully exploit their therapeutic potential
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Santi, Ludovica, Beretta, Stefano, Berti, Margherita, Savoia, Evelyn Oliva, Passerini, Laura, Mancino, Marilena, De Ponti, Giada, Alberti, Gaia, Quaranta, Pamela, Basso-Ricci, Luca, Avanzini, Maria Antonietta, Merelli, Ivan, Scala, Serena, Ferrari, Samuele, Aiuti, Alessandro, Bernardo, Maria Ester, and Crippa, Stefania
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- 2024
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8. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
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Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Amara, Ali, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Arkin, Lisa M., Feldman, Hagit Baris, Bastard, Paul, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Borghesi, Alessandro, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Butte, Manish J., Casanova, Jean-Laurent, Casari, Giorgio, Christodoulou, John, Cobat, Aurélie, Colobran, Roger, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., Duval, Xavier, El Baghdadi, Jamila, Eloy, Philippine, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Gregersen, Peter K., Grimbacher, Bodo, Haerynck, Filomeen, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jouanguy, Emmanuelle, Kaja, Elżbieta, Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Maródi, László, Mentré, France, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O'Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebeca, Perez-Tur, Jordi, Perlin, David S., Pesole, Graziano, Planas, Anna M., Prando, Carolina, Pujol, Aurora, Puel, Anne, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammad, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Soumelis, Vassili, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart E., Uddin, K. M. Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Zhang, Qian, Zhang, Shen-Ying, Bureau, Serge, Vacher, Yannick, Gysembergh-Houal, Anne, Demerville, Lauren, Benleulmi-Chaachoua, Abla, Abad, Sebastien, Abassi, Radhiya, Abdellaoui, Abdelrafie, Abdelmalek, Abdelkrim, Abdoul, Hendy, Abergel, Helene, Abeud, Fariza, Abgrall, Sophie, Abisror, Noemie, Adechian, Marylise, Aderdour, Nordine, Admane, Hakeem Farid, Adnet, Frederic, Afritt, Sara, Agostini, Helene, Aguilar, Claire, Agut, Sophie, Aiello, Tommaso Francesco, Kaci, Marc Ait, Oufella, Hafid Ait, Ajeenthiravasan, Gokula, Alauzy, Virginie, Alby-Laurent, Fanny, Allard, Lucie, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amam, Sabrina, Amrouche, Lucile, Andronikof, Marc, Anglicheau, Dany, Anguel, Nadia, Annane, Djillali, Aounzou, Mohammed, Aparicio, Caroline, Aratus, Gladys, Arlet, Jean-Benoit, Arzoine, Jeremy, Aslangul, Elisabeth, Assefi, Mona, Aubry, Adeline, Audiffred, Laetitia, Audureau, Etienne, Auger, Christelle Nathalie, Auregan, Jean-Charles, Awotar, Celine, Milla, Sonia Ayllon, Azan, Delphine, Azemar, Laurene, Azzouguen, Billal, Elrufaai, Marwa Bachir, Badsi, Aïda, Bakouboula, Prissile, Balcerowiak, Coline, Balde, Fanta, Baldivia, Elodie, Bangamingo, Eliane-Flore, Baptiste, Amandine, Baran-Marszak, Fanny, Barau, Caroline, Barget, Nathalie, Baronnet, Flore, Barthelemy, Romain, Baudel, Jean-Luc, Baudry, Camille, Baudry, Elodie, Beaugerie, Laurent, Belamri, Adel, Belaube, Nicolas, Belilita, Rhida, Bellassen, Pierre, Belmokhtar, Rawan, Beltran, Isabel, Benainous, Ruben, Benallaoua, Mourad, Benamouzig, Robert, Benbara, Amélie, Benhida, Jaouad, Benkhelouf, Anis, Benlagha, Jihene, Benmostafa, Chahinez, Benothmane, Skander, Bentifraouine, Miassa, Berard, Laurence, Bernier, Quentin, Berti, Enora, Bertier, Astrid, Berton, Laure, Bessis, Simon, Beurton, Alexandra, Bianco, Celine, Bianquis, Clara, Bidar, Frank, Blanche, Philippe, Blayau, Clarisse, Bleibtreu, Alexandre, Blin, Emmanuelle, Bloch-Queyrat, Coralie, Boissier, Marie-Christophe, Bollens, Diane, Bolzoni, Marion, Bompard, Rudy pierre, Bonnet, Nicolas, Bonnouvrier, Justine, Botha, Shirmonecrystal, Boucenna, Wissam, Bouchama, Fatiha, Bouchaud, Olivier, Bouchghoul, Hanane, Boudjebla, Taoueslylia, Boudjema, Noel, Bouffard, Catherine, Bougle, Adrien, Bouguerra, Meriem, Bouras, Leila, Bourcier, Agnes, Durand, Anne Bourgarit, Bourrier, Anne, Bouscarat, Fabrice, Bouvry, Diane, Bouziri, Nesrine, Bouzrara, Ons, Bribier, Sarah, Brugier, Delphine, Brunel, Melanie, Bui, Eida, Buisson, Anne, Bukreyeva, Iryna, Bureau, Côme, Cadranel, Jacques, Cailhol, Johann, Calin, Ruxandra, Vega, Clara Campos, Canavaggio, Pauline, Cancella, Marta, Cantin, Delphine, Cao, Albert, Carbillon, Lionel, Carlier, Nicolas, Cassard, Clementine, Castor, Guylaine, Cauchy, Marion, Cha, Olivier, Chaigne, Benjamin, Challal, Salima, Champion, Karine, Chariot, Patrick, Chas, Julie, Chauveau, Simon, Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Guibal El Kayani, Sandrine Dautheville, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Djamouri Monnory, Fatima-Zohra, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Santos, Catarina Dos, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, El Khalifa, Jihane, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel Sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, Arianna, Fliss, Souha, Fournier, Marie-Céline, Fournier, Benjamin, Francois, Hélène, Freynet, Olivia, Frigout, Yvann, Fromont, Isaure, Fuentes, Axelle, Furet, Thomas, Galand, Joris, Garnier, Marc, Gaubert, Agnes, Gaudry, Stéphane, Gaugain, Samuel, Gauthier, Damien, Gautier, Maxime, Georgin-Lavialle, Sophie, Geromin, Daniela, Ghalayini, Mohamed, Ghaleh, Bijan, Ghezal, Myriam, Gibelin, Aude, Gimeno, Linda, Girard, Benoit, Leprieur, Bénédicte Giroux, Gomes, Doryan, Gomes-Pires, Elisabete, Gouge, Anne, Gouja, Amel, Goulet, Helene, Goupil, Sylvain, De Bouille, Jeanne Goupil, Gras, Julien, Greffe, Segolene, Grimaldi, Lamiae, Guedeney, Paul, Guidet, Bertrand, Guillo, Matthias, Gulczynski, Mariechristelle, Hadjam, Tassadit, Haguenauer, Didier, Hammal, Soumeya, Hammoudi, Nadjib, Hanon, Olivier, Harrois, Anarole, Hausfater, Pierre, Hautem, Coraline, Hekimian, Guillaume, Heming, Nicholas, Hermine, Olivier, Ho, Sylvie, Houllier, Marie, Huot, Benjamin, Huscenot, Tessa, Saied, Wafa Ibn, Ikherbane, Ghilas, Imarazene, Meriem, Ingiliz, Patrick, Iratni, Lina, Jaureguiberry, Stephane, Jean-Marc, Jean-Francois, Jeyarajasingham, Deleena, Jouany, Pauline, Jouis, Veronique, Jourdaine, Clement, Kafif, Ouifiya, Kallala, Rim, Katsahian, Sandrine, Kelesyan, Lilit, Keo, Vixra, Ketz, Flora, Khamis, Warda, Khelili, Enfel, Khellaf, Mehdi, Kotokpo Youkou, Christy Gaëlla, Kounis, Ilias, Kpalma, Gaelle, Krause, Jessica, Labbe, Vincent, Lacombe, Karine, Lacorte, Jean-Marc, Lafont, Anne Gaelle, Lafont, Emmanuel, Lagha, Lynda, Lamhaut, Lionel, Lancelot, Aymeric, Landman, Cecilia, Lanternier, Fanny, Larcheveque, Cecile, Combe, Caroline Lascoux, Lassel, Ludovic, Laverdant, Benjamin, Lavergne, Christophe, Lavillegrand, Jean-Rémi, Lazureanu, Pompilia, Le Guennec, Loïc, Leberre, Lamia, Leblanc, Claire, Leboyer, Marion, Lecomte, Francois, Lecorre, Marine, Leenhardt, Romain, Lefebvre, Marylou, Lefebvre, Bénédicte, Legendre, Paul, Leger, Anne, Legros, Laurence, Legrosse, Justyna, Lehuunghia, Sébastien, Lemarec, Julien, Leporrier-Ext, Jeremie, Lesein, Manon, Lesur, Hubert, Levy, Vincent, Levy, Albert, Lopes, Edwige, Lopes, Amanda, Lopez, Vanessa, Lopinto, Julien, Lortholary, Olivier, Louadah, Badr, Loze, Bénédicte, Lucas, Marie-Laure, Lucasamichi, Axelle, Luong, Liem Binh, Magazimama-Ext, Arouna, Maingret, David, Mameri, Lakhdar, Manivet, Philippe, Mansouri, Cylia, Marcault, Estelle, Marey, Jonathan, Marin, Nathalie, Marois, Clémence, Martin, Olivier, Martineau, Lou, Martinez-Lopez, Cannelle, Martyniuck, Pierre, De Farcy, Pauline Mary, Marzouk, Nessrine, Masmoudi, Rafik, Mebazaa, Alexandre, Mechai, Frédéric, Mecozzi, Fabio, Mediouni, Chamseddine, Megarbane, Bruno, Meghadecha, Mohamed, Mejean, Élodie, Mekinian, Arsene, Abdelhadi, Nour Mekki, Mekni, Rania, Meliti, Thinhinan Sabrina, Lima, Breno Melo, Meng, Paris, Merbah, Soraya, Messani, Fadhila, Messaoudi, Yasmine, Mewasing, Baboo-Irwinsingh, Meziane, Lydia, Michelot-Burger, Carole, Mignot, Françoise, Minka, Fadi Hillary, Miyara, Makoto, Moine, Pierre, Molina, Jean-Michel, Montegnies-Boulet, Anaïs, Monti, Alexandra, Montlahuc, Claire, Montout, Anne-Lise, Moores, Alexandre, Morbieu, Caroline, Mortelette, Helene, Mouly, Stéphane, Muzaffar, Rosita, Nacerddine, Cherifa Iness, Nadal, Marine, Nadif, Hajer, Nassarmadji, Kladoum, Natella, Pierre, Ndingamondze, Sandrine, Neraal, Stefan, Nguyen, Caroline, N'Guyen, Bao, Larmurier, Isabelle Nion, Nlomenyengue, Luc, Noel, Nicolas, Nunes, Hilario, Omar, Edris, Ouazene, Zineb, Ouedraogo, Elise, Ouelaa, Wassila, Oukhedouma, Anissa, Amara, Yasmina Ould, Oya, Herve, Oziel, Johanna, Padilla, Thomas, Paillaud, Elena, Paiva, Solenne, Parfait, Beatrice, Parize, Perrine, Parizot, Christophe, Parrot, Antoine, Pavot, Arthur, Peaudecerf, Laetitia, Pene, Frédéric, Pepin, Marion, Pernet, Julie, Pernin, Claire, Petit, Mylène, Peyrony, Olivier, Pietri, Marie-Pierre, Pietri, Olivia, De Chambrun, Marc Pineton, Pinson, Michelle, Pintado, Claire, Piquard, Valentine, Pires, Christine, Planquette, Benjamin, Poirier, Sandrine, Pomel, Anne-Laure, Pons, Stéphanie, Ponscarme, Diane, Pourcelot, Annegaelle, Pourcher, Valérie, Pouvaret, Anne, Prever, Florian, Previlon, Miresta, Prevost, Margot, Provoost, Marie-Julie, Quemeneur, Cyril, Rafat, Cédric, Rami, Agathe, Ranque, Brigitte, Raphael, Maurice, Raphalen, Jean Herle, Rastoin, Anna, Raux, Mathieu, Rebai, Amani, Reby, Michael, Regent, Alexis, Regrag, Asma, Resche-Rigon, Matthieu, Ressaire, Quentin, Richard, Christian, Richard, Mariecaroline, Robert, Maxence, Rohaut, Benjamin, Rolland-Debord, Camille, Ropers, Jacques, Roque-Afonso, Anne-Marie, Rosso, Charlotte, Rousseaux, Mélanie, Rousseaux, Nabila, Roux, Swasti, Roux, Lorène, Rouzaud, Claire, Rozes, Antoine, Rubenstein, Emma, Sabate, Jean-Marc, Sabet, Sheila, Sacleux, Sophie-Caroline, Kermanach, Nathalie Saidenberg, Saliba, Faouzi, Salmon, Dominique, Savale, Laurent, Savary, Guillaume, Sberro, Rebecca, Scemla, Anne, Schlemmer, Frederic, Schwartz, Mathieu, Sedfi, Saïd, Sefir-Kribel, Samia, Seksik, Philippe, Sellier, Pierre, Selves, Agathe, Sembach, Nicole, Semerano, Luca, Senat, Marie-Victoire, Sene, Damien, Serris, Alexandra, Sese, Lucile, Sghiouar, Naima, Sigaux, Johanna, Siguier, Martin, Silvain, Johanne, Simon, Noémie, Simon, Tabassome, Skandri, Lina Innes, Slimani, Miassa, Snauwaert, Aurélie, Sokol, Harry, Soliman, Heithem, Soltani, Nisrine, Soyer, Benjamin, Steg, Gabriel, Suarez, Lydia, Szwebel, Tali-Anne, Taffame, Kossi, Tandjaoui-Lambiotte, Yacine, Tantet, Claire, Tateo, Mariagrazia, Theodose, Igor, Thiebaud, Pierre clement, Thomas, Caroline, Tiercelet, Kelly, Tisserand, Julie, Tomczak, Carole, Torelino, Krystel, Touam-Ext, Fatima, Toumi, Lilia, Toury, Gustave, Toy-Miou, Mireille, Dinh Thanh Lien, Olivia Tran, Trandinh, Alexy, Treluyer, Jean-Marc, Trinque, Baptiste, Truchot, Jennifer, Tubach, Florence, Tubiana, Sarah, Tunesi, Simone, Turpin, Matthieu, Turpin, Agathe, Urbina, Tomas, Narvaez, Rafael Usubillaga, Uzunhan, Yurdagul, Vaittinadaayar, Prabakar, Valent, Arnaud, Valentian, Maelle, Valin, Nadia, Vallet, Hélène, Vaz, Marina, Vazquezibarra, Miguel-Alejandro, Vedie, Benoit, Velly, Laetitia, Verstuyft, Celine, Viallette, Cedric, Vicaut, Eric, Vignes, Dorothee, Vimpere, Damien, Virlouvet, Myriam, Voiriot, Guillaume, Voisot, Lena, Weiss, Emmanuel, Weiss, Nicolas, Winchenne, Anaïs, Yordanov, Youri, Zafrani, Lara, Zaidan, Mohamad, Zaidi, Wissem, Zak, Cathia, Zarhrate-Ghoul, Aida, Zatout, Ouassila, Zeino, Suzanne, Zeitouni, Michel, Zemirli, Naïma, Zerah, Lorene, Zia, Ounsa, Ziol, Marianne, Zolario, Oceane, Zuber, Julien, Andrejak, Claire, Angoulvant, François, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behillil, Sylvie, Beluze, Marine, Benkerrou, Dehbia, Bhavsar, Krishna, Bouadma, Lila, Bouchez, Sabelline, Bouscambert, Maude, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Couffin-Cadiergues, Sandrine, d’Ortenzio, Eric, Debray, Marie-Pierre, Deconinck, Laurene, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Elharrar, Brigitte, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean-Christophe, Malvy, Denis, Mambert, Marina, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, van der Werf, Sylvie, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Goas, Carole L.E., Montagne, Samatha, Richard, Lucie, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Bourgeon, Marilou, Lefévre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Kouakam, Christelle, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Espérou, Hélène, Hendou, Samia, Foti, Giuseppe, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Bellani, Giacomo, Abad, Jorge, Accordino, Giulia, Angelini, Micol, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Darazam, Ilad Alavi, Roblero Albisures, Jonathan Antonio, Aldave, Juan C., Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, AlKhater, Suzan A., Allardet-Servent, Jerome, Allende, Luis M., Alonso-Arias, Rebeca, Alshahrani, Mohammed S., Alsina, Laia, Amoura, Zahir, Antolí, Arnau, Arrestier, Romain, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Barzaghi, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Cáceres Agra, Juan José, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, Castillo de Vera, Martín, Castro, Mateus V., Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Boulanger, Cécile, Clavé, Père, Clotet, Bonaventura, Codina, Anna, Comarmond, Cloé, Comoli, Patrizia, Corsico, Angelo G., Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munte, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H., Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Etxart Lasa, Maria Pilar, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S.C., Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Garçon, Pierre, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Cifuentes Godínez, Karen Alejandra, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I., González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Gut, Marta, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P., Hraiech, Sami, Humbert, Linda, Hung, Ivan F.N., Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Kanık-Yüksek, Saliha, Kara, Yalcin, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Keles, Sevgi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M.C., Kwan, Yat Wah M., Kwok, Janette S.Y., Lagier, Jean-Christophe, Lam, David S.Y., Lampropoulou, Vicky, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Adrian Bolanos Lima, Edson Jose, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C., Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Martinez-Picado, Javier, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa R.B., Matthews, Gail V., Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P., Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Morange, Pierre-Emmanuel, Mordacq, Clémence, Morelle, Guillaume, Mouly, Stéphane J., Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Yuk-Yung, Hubert Nielly, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Karabela, Semsi Nur, Ocejo-Vinyals, J. Gonzalo, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, González Pellecer, Nancy Carolina, Pellegrini, Silvia, Pérez de Diego, Rebeca, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Philippot, Quentin, Picod, Adrien, Pineton de Chambrun, Marc, Piralla, Antonio, Planas-Serra, Laura, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S., Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, Rivet, Nadia, Rivière, Jacques G., Rocamora-Blanch, Gemma, Rodero, Mathieu P., Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Gallego, Carlos, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Ruiz del Prado, Maria Yolanda, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E., Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M., Smith, Nikaia, Sobh, Ali, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon J., Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Troya, Jesús, Tsang, Owen T.Y., Tserel, Liina, Tso, Eugene Y.K., Tucci, Alessandra, Tüter Öz, Şadiye Kübra, Ursini, Matilde Valeria, Utsumi, Takanori, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Zuniga Veliz, Silvia Patricia, Vidigal, Mateus C., Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie E., Villar-García, Judit, Vincent, Audrey, Van der Linden, Dimitri, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wu, Alan K.L., Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E., Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Van Praet, Jens, Lambrecht, Bart N., Van Braeckel, Eva, Bosteels, Cédric, Hoste, Levi, Hoste, Eric, Bauters, Fré, De Clercq, Jozefien, Heijmans, Catherine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Young, Mary-Anne, Willis, Amanda, Lapuente-Suanzes, Paloma, de Andrés-Martín, Ana, Berkell, Matilda, Carelli, Valerio, Fiorentino, Alessia, Malhotra, Surbhi, Mattiaccio, Alessandro, Pippucci, Tommaso, Seri, Marco, Tacconelli, Evelina, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David T.P., Bugiani, Marianna, Bulle, Esther, Chouchane, Osoul, Cloherty, Alex, Dijkstra, Mirjam, Dongelmans, Dave A., Dujardin, Romein W.G., Elbers, Paul, Fleuren, Lucas, Geerlings, Suzanne, Geijtenbeek, Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin P., Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Hermans, Sabine M., Heunks, Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe W., de Jong, Menno D., Koning, Rutger, Lim, Endry H.T., van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther J., Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan A.I., van der Poll, Tom, Preckel, Bennedikt, Prins, Jan M., Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits C.F. J., Schinkel, Michiel, Schultz, Marcus J., Schrauwen, Femke A.P., Schuurmans, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen A., Smeele, Patrick, Smit, Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M., Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise P., Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A.H., Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P.J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Delmonte, Ottavia M., Danielson, Jeffrey J., Biondi, Andrea, Bettini, Laura Rachele, D’Angiò, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Marchal, Astrid, Cirulli, Elizabeth T., Neveux, Iva, Bellos, Evangelos, Thwaites, Ryan S., Schiabor Barrett, Kelly M., Zhang, Yu, Nemes-Bokun, Ivana, Kalinova, Mariya, Catchpole, Andrew, Lack, Justin B., Chiu, Christopher, and Grzymski, Joseph J.
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- 2024
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9. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
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Vallée, 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., and Albert, Michael H.
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- 2024
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10. Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy
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Scala, Serena, Ferrua, Francesca, Basso-Ricci, Luca, Dionisio, Francesca, Omrani, Maryam, Quaranta, Pamela, Jofra Hernandez, Raisa, Del Core, Luca, Benedicenti, Fabrizio, Monti, Ilaria, Giannelli, Stefania, Fraschetta, Federico, Darin, Silvia, Albertazzi, Elena, Galimberti, Stefania, Montini, Eugenio, Calabria, Andrea, Cicalese, Maria Pia, and Aiuti, Alessandro
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- 2023
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11. Circulating hematopoietic stem/progenitor cell subsets contribute to human hematopoietic homeostasis
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Quaranta, Pamela, Basso-Ricci, Luca, Jofra Hernandez, Raisa, Pacini, Guido, Naldini, Matteo Maria, Barcella, Matteo, Seffin, Luca, Pais, Giulia, Spinozzi, Giulio, Benedicenti, Fabrizio, Pietrasanta, Carlo, Cheong, Jin Gyu, Ronchi, Andrea, Pugni, Lorenza, Dionisio, Francesca, Monti, Ilaria, Giannelli, Stefania, Darin, Silvia, Fraschetta, Federico, Barera, Graziano, Ferrua, Francesca, Calbi, Valeria, Ometti, Marco, Di Micco, Raffaella, Mosca, Fabio, Josefowicz, Steven Zvi, Montini, Eugenio, Calabria, Andrea, Bernardo, Maria Ester, Cicalese, Maria Pia, Gentner, Bernhard, Merelli, Ivan, Aiuti, Alessandro, and Scala, Serena
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- 2024
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12. Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities
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Bulté, Dimitri, Barzaghi, Federica, Mesa-Nuñez, Cristina, Rigamonti, Chiara, Basso-Ricci, Luca, Visconti, Camilla, Crippa, Stefania, Pettinato, Emanuela, Gilioli, Diego, Milani, Raffaella, Quaranta, Pamela, Caorsi, Roberta, Cafaro, Alessia, Cangemi, Giuliana, Lupia, Michela, Schena, Francesca, Grossi, Alice, Di Colo, Giulia, Federici, Silvia, Insalaco, Antonella, De Benedetti, Fabrizio, Marktel, Sarah, Di Micco, Raffaella, Bernardo, Maria Ester, Scala, Serena, Cicalese, Maria Pia, Conti, Francesca, Miano, Maurizio, Gattorno, Marco, Dufour, Carlo, Aiuti, Alessandro, and Mortellaro, Alessandra
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- 2024
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13. Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset
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Carrera, Paola, Marzinotto, Ilaria, Bonfanti, Riccardo, Massimino, Luca, Calzavara, Silvia, Favellato, Μariagrazia, Jofra, Tatiana, De Giglio, Valeria, Bonura, Clara, Stabilini, Angela, Favalli, Valeria, Bondesan, Simone, Cicalese, Maria Pia, Laurenzi, Andrea, Caretto, Amelia, Frontino, Giulio, Rigamonti, Andrea, Molinari, Chiara, Scavini, Marina, Sandullo, Federica, Zapparoli, Ettore, Caridi, Nicoletta, Bonfiglio, Silvia, Castorani, Valeria, Ungaro, Federica, Petrelli, Alessandra, Barera, Graziano, Aiuti, Alessandro, Bosi, Emanuele, Battaglia, Manuela, Piemonti, Lorenzo, Lampasona, Vito, and Fousteri, Georgia
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- 2023
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14. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
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Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Manry, Jérémy, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesus, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Megarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R, Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M, Zhang, Yu, Snow, Andrew L, Holland, Steven M, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Coulibaly, Boubacar, Anglicheau, Dany, Planas, Anna M, Haerynck, Filomeen, Duvlis, Sotirija, Nussbaum, Robert L, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A, Bakkouri, Jalila El, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A, Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, and Klocperk, Adam
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Pneumonia ,Lung ,Infectious Diseases ,Emerging Infectious Diseases ,Vaccine Related ,Clinical Research ,Pneumonia & Influenza ,Prevention ,Infection ,Good Health and Well Being ,Adolescent ,Adult ,Aged ,Aged ,80 and over ,Antibodies ,Neutralizing ,Autoantibodies ,COVID-19 ,Case-Control Studies ,Child ,Child ,Preschool ,Critical Illness ,Humans ,Immunoglobulin G ,Infant ,Infant ,Newborn ,Interferon Type I ,Interferon-alpha ,Middle Aged ,Young Adult ,HGID Lab ,COVID Clinicians ,COVID-STORM Clinicians ,NIAID Immune Response to COVID Group ,NH-COVAIR Study Group ,Danish CHGE ,Danish Blood Donor Study ,St. James's Hospital ,SARS CoV2 Interest group ,French COVID Cohort Study Group ,Imagine COVID-Group ,Milieu Intérieur Consortium ,CoV-Contact Cohort ,Amsterdam UMC Covid-19 ,Biobank Investigators ,COVID Human Genetic Effort ,CONSTANCES cohort ,3C-Dijon Study ,Cerba Health-Care ,Etablissement du Sang study group - Abstract
Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/mL, in plasma diluted 1 to 10) of IFN-α and/or -ω are found in about 10% of patients with critical COVID-19 pneumonia, but not in subjects with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or -ω (100 pg/mL, in 1/10 dilutions of plasma) in 13.6% of 3,595 patients with critical COVID-19, including 21% of 374 patients > 80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1,124 deceased patients (aged 20 days-99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-β. We also show, in a sample of 34,159 uninfected subjects from the general population, that auto-Abs neutralizing high concentrations of IFN-α and/or -ω are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4% >80 years. Moreover, the proportion of subjects carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals 80 years. By contrast, auto-Abs neutralizing IFN-β do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over-80s, and total fatal COVID-19 cases.
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- 2021
15. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
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Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., 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, Cathébras, 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, Hammarström, Lennart, 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, Körholz, Julia, Krüger, 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, Trück, 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, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan
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- 2023
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16. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
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Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G
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Vaccine Related ,Clinical Research ,Pneumonia & Influenza ,Prevention ,Pediatric ,Emerging Infectious Diseases ,Pneumonia ,Infectious Diseases ,Lung ,Biodefense ,Rare Diseases ,Good Health and Well Being ,Adolescent ,Adult ,Aged ,COVID-19 ,Child ,Child ,Preschool ,Female ,Genetic Diseases ,Inborn ,Humans ,Immunologic Deficiency Syndromes ,Infant ,Infant ,Newborn ,Male ,Middle Aged ,Retrospective Studies ,Risk Factors ,SARS-CoV-2 ,Severity of Illness Index ,Young Adult ,primary immunodeficiencies ,inborn errors of immunity ,hypogammaglobulinemia ,immune dysregulation ,IUIS Committee of Inborn Errors of Immunity ,Immunology ,Allergy - Abstract
BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.
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- 2021
17. Updated Management Guidelines for Adenosine Deaminase Deficiency
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Grunebaum, Eyal, Booth, Claire, Cuvelier, Geoffrey D.E., Loves, Robyn, Aiuti, Alessandro, and Kohn, Donald B.
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- 2023
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18. Gene therapy for Wiskott-Aldrich syndrome: History, new vectors, future directions
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Ferrua, Francesca, Marangoni, Francesco, Aiuti, Alessandro, and Roncarolo, Maria Grazia
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Biomedical and Clinical Sciences ,Immunology ,Genetic Therapy ,Genetic Vectors ,Hematopoietic Stem Cells ,Humans ,Male ,Transplantation Conditioning ,Wiskott-Aldrich Syndrome ,Gene therapy ,Wiskott-Aldrich syndrome ,lentiviral vector ,hematopoietic stem/progenitor cell ,reduced-intensity conditioning ,Allergy - Published
- 2020
19. Genetic engineering meets hematopoietic stem cell biology for next-generation gene therapy
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Ferrari, Samuele, Valeri, Erika, Conti, Anastasia, Scala, Serena, Aprile, Annamaria, Di Micco, Raffaella, Kajaste-Rudnitski, Anna, Montini, Eugenio, Ferrari, Giuliana, Aiuti, Alessandro, and Naldini, Luigi
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- 2023
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20. A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
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Migliavacca, Maddalena, Basso Ricci, Luca, Farinelli, Giada, Calbi, Valeria, Tucci, Francesca, Barzaghi, Federica, Ferrua, Francesca, Cicalese, Maria Pia, Darin, Silvia, Barzaghi, Lina Raffaella, Giglio, Fabio, Peccatori, Jacopo, Fumagalli, Francesca, Nicoletti, Roberto, Giannelli, Stefania, Sartirana, Claudia, Bandiera, Alessandro, Esposito, Maria, Milani, Raffaella, Mazzi, Benedetta, Finocchi, Andrea, Marktel, Sarah, Assanelli, Andrea, Locatelli, Franco, Ciceri, Fabio, Aiuti, Alessandro, and Bernardo, Maria Ester
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- 2022
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21. Cellular and transcriptional dynamics of human neutrophils at steady state and upon stress
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Montaldo, Elisa, Lusito, Eleonora, Bianchessi, Valentina, Caronni, Nicoletta, Scala, Serena, Basso-Ricci, Luca, Cantaffa, Carla, Masserdotti, Alice, Barilaro, Mattia, Barresi, Simona, Genua, Marco, Vittoria, Francesco Maria, Barbiera, Giulia, Lazarevic, Dejan, Messina, Carlo, Xue, Elisabetta, Marktel, Sarah, Tresoldi, Cristina, Milani, Raffaella, Ronchi, Paola, Gattillo, Salvatore, Santoleri, Luca, Di Micco, Raffaella, Ditadi, Andrea, Belfiori, Giulio, Aleotti, Francesca, Naldini, Matteo Maria, Gentner, Bernhard, Gardiman, Elisa, Tamassia, Nicola, Cassatella, Marco Antonio, Hidalgo, Andrés, Kwok, Immanuel, Ng, Lai Guan, Crippa, Stefano, Falconi, Massimo, Pettinella, Francesca, Scapini, Patrizia, Naldini, Luigi, Ciceri, Fabio, Aiuti, Alessandro, and Ostuni, Renato
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- 2022
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22. Ensuring a future for gene therapy for rare diseases
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Aiuti, Alessandro, Pasinelli, Francesca, and Naldini, Luigi
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- 2022
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23. La cura inaspettata: L'HIV da peste del secolo a farmaco di precisione
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Aiuti Alessandro, Annamaria Zaccheddu
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- 2023
24. The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)
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Giardino, Giuliana, Milito, Cinzia, Lougaris, Vassilios, Punziano, Alessandra, Carrabba, Maria, Cinetto, Francesco, Scarpa, Riccardo, Dellepiane, Rosa Maria, Ricci, Silvia, Rivalta, Beatrice, Conti, Francesca, Marzollo, Antonio, Firinu, Davide, Cirillo, Emilia, Lagnese, Gianluca, Cancrini, Caterina, Martire, Baldassare, Danieli, Maria Giovanna, Pession, Andrea, Vacca, Angelo, Azzari, Chiara, Fabio, Giovanna, Soresina, Annarosa, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Cicalese, Maria Pia, Aiuti, Alessandro, Plebani, Alessandro, Quinti, Isabella, and Pignata, Claudio
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- 2022
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25. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
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Kohn, Donald B, Hershfield, Michael S, Puck, Jennifer M, Aiuti, Alessandro, Blincoe, Annaliesse, Gaspar, H Bobby, Notarangelo, Luigi D, and Grunebaum, Eyal
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Animals ,Humans ,Agammaglobulinemia ,Severe Combined Immunodeficiency ,Adenosine Deaminase ,Hematopoietic Stem Cell Transplantation ,Consensus ,Enzyme Replacement Therapy ,Genetic Therapy ,Adenosine deaminase deficiency ,enzyme replacement therapy ,gene therapy ,hematopoietic stem cell transplantation ,lentivirus ,severe combined immune deficiency ,Pediatric ,Stem Cell Research ,Transplantation ,Clinical Research ,Stem Cell Research - Nonembryonic - Human ,Regenerative Medicine ,Hematology ,Stem Cell Research - Nonembryonic - Non-Human ,5.2 Cellular and gene therapies ,Development of treatments and therapeutic interventions ,Immunology ,Allergy - Abstract
Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). Most affected infants can receive a diagnosis while still asymptomatic by using an SCID newborn screening test, allowing early initiation of therapy. We review the evidence currently available and propose a consensus management strategy. In addition to treatment of the immune deficiency seen in patients with ADA-SCID, patients should be followed for specific noninfectious respiratory, neurological, and biochemical complications associated with ADA deficiency. All patients should initially receive enzyme replacement therapy (ERT), followed by definitive treatment with either of 2 equal first-line options. If an HLA-matched sibling donor or HLA-matched family donor is available, allogeneic hematopoietic stem cell transplantation (HSCT) should be pursued. The excellent safety and efficacy observed in more than 100 patients with ADA-SCID who received gammaretrovirus- or lentivirus-mediated autologous hematopoietic stem cell gene therapy (HSC-GT) since 2000 now positions HSC-GT as an equal alternative. If HLA-matched sibling donor/HLA-matched family donor HSCT or HSC-GT are not available or have failed, ERT can be continued or reinstituted, and HSCT with alternative donors should be considered. The outcomes of novel HSCT, ERT, and HSC-GT strategies should be evaluated prospectively in "real-life" conditions to further inform these management guidelines.
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- 2019
26. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study
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Aiuti, Alessandro, Maschan, Alexei, Aljurf, Mahmoud, Gedde-Dahl, Tobias, Gurman, Gunhan, Bordon, Victoria, Kriván, Gergely, Locatelli, Franco, Porta, Fulvio, Valcárcel, David, Beguin, Yves, Faraci, Maura, Kröger, Nicolaus, Kulagin, Aleksandr, Shaw, Peter J., Veelken, Joan Hendrik, Diaz de Heredia, Cristina, Fagioli, Franca, Felber, Matthias, Gruhn, Bernd, Holter, Wolfgang, Rössig, Claudia, Sedlacek, Petr, Apperley, Jane, Ayas, Mouhab, Bodova, Ivana, Choi, Goda, Cornelissen, J.J., Sirvent, Anne, Khan, Anjum, Kupesiz, Alphan, Lenhoff, Stig, Ozdogu, Hakan, von der Weid, Nicolas, Rovira, Montserrat, Schots, Rik, Vinh, Donald C., Albert, Michael H., Sirait, Tiarlan, Eikema, Dirk-Jan, Bakunina, Katerina, Wehr, Claudia, Suarez, Felipe, Fox, Maria Laura, Mahlaoui, Nizar, Gennery, Andrew R., Lankester, Arjan C., Beier, Rita, Bernardo, Maria Ester, Bigley, Venetia, Lindemans, Caroline A., Burns, Siobhan O., Carpenter, Ben, Dybko, Jaroslaw, Güngör, Tayfun, Hauck, Fabian, Lum, Su Han, Balashov, Dmitry, Meisel, Roland, Moshous, Despina, Schulz, Ansgar, Speckmann, Carsten, Slatter, Mary A., Strahm, Brigitte, Uckan-Cetinkaya, Duygu, Meyts, Isabelle, Vallée, Tanja C., Wynn, Robert, Neven, Bénédicte, and Morris, Emma C.
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- 2022
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27. A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders
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Tucci, Francesca, Galimberti, Stefania, Naldini, Luigi, Valsecchi, Maria Grazia, and Aiuti, Alessandro
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- 2022
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28. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis
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Albert, Michael H., Slatter, Mary A., Gennery, Andrew R., Güngör, Tayfun, Bakunina, Katerina, Markovitch, Benyamin, Hazelaar, Sheree, Sirait, Tiarlan, Courteille, Virginie, Aiuti, Alessandro, Aleinikova, Olga V., Balashov, Dmitry, Bernardo, Maria Ester, Bodova, Ivana, Bruno, Benedicte, Cavazzana, Marina, Chiesa, Robert, Fischer, Alain, Hauck, Fabian, Ifversen, Marianne, Kałwak, Krzysztof, Klein, Christoph, Kulagin, Alexander, Kupesiz, Alphan, Kuskonmaz, Baris, Lindemans, Caroline A., Locatelli, Franco, Lum, Su Han, Maschan, Alexey, Meisel, Roland, Moshous, Despina, Porta, Fulvio, Sauer, Martin G., Sedlacek, Petr, Schulz, Ansgar, Suarez, Felipe, Vallée, Tanja C., Winiarski, Jacek H., Zecca, Marco, Neven, Bénédicte, Veys, Paul, and Lankester, Arjan C.
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- 2022
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29. Access to gene therapy for rare diseases when commercialization is not fit for purpose
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Fox, Thomas, Bueren, Juan, Candotti, Fabio, Fischer, Alain, Aiuti, Alessandro, Lankester, Arjan, and Booth, Claire
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- 2023
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30. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
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Fumagalli, Francesca, Calbi, Valeria, Natali Sora, Maria Grazia, Sessa, Maria, Baldoli, Cristina, Rancoita, Paola Maria V, Ciotti, Francesca, Sarzana, Marina, Fraschini, Maddalena, Zambon, Alberto Andrea, Acquati, Serena, Redaelli, Daniela, Attanasio, Vanessa, Miglietta, Simona, De Mattia, Fabiola, Barzaghi, Federica, Ferrua, Francesca, Migliavacca, Maddalena, Tucci, Francesca, Gallo, Vera, Del Carro, Ubaldo, Canale, Sabrina, Spiga, Ivana, Lorioli, Laura, Recupero, Salvatore, Fratini, Elena Sophia, Morena, Francesco, Silvani, Paolo, Calvi, Maria Rosa, Facchini, Marcella, Locatelli, Sara, Corti, Ambra, Zancan, Stefano, Antonioli, Gigliola, Farinelli, Giada, Gabaldo, Michela, Garcia-Segovia, Jesus, Schwab, Laetitia C, Downey, Gerald F, Filippi, Massimo, Cicalese, Maria Pia, Martino, Sabata, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, and Aiuti, Alessandro
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- 2022
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31. A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation
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Consiglieri, Giulia, Ferrua, Francesca, Aiuti, Alessandro, and Cicalese, Maria Pia
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- 2022
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32. Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation
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Sereni, Lucia, Castiello, Maria Carmina, Marangoni, Francesco, Anselmo, Achille, di Silvestre, Dario, Motta, Sara, Draghici, Elena, Mantero, Stefano, Thrasher, Adrian J, Giliani, Silvia, Aiuti, Alessandro, Mauri, Pierluigi, Notarangelo, Luigi D, Bosticardo, Marita, and Villa, Anna
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Biomedical and Clinical Sciences ,Immunology ,Clinical Research ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Inflammatory and immune system ,Adolescent ,Adult ,Animals ,Autoimmunity ,Blood Platelets ,CD40 Ligand ,Child ,Child ,Preschool ,Female ,Humans ,Infant ,Inflammation ,Mice ,Inbred C57BL ,Mice ,Knockout ,Platelet Count ,Wiskott-Aldrich Syndrome ,Wiskott-Aldrich Syndrome Protein ,Young Adult ,Wiskott-Aldrich syndrome ,platelet deficiency ,CD40 ligand ,autoantibodies ,autoimmunity ,Allergy - Abstract
BACKGROUND:Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, infections, and susceptibility to autoimmunity and malignancies. Thrombocytopenia is a constant finding, but its pathogenesis remains elusive. OBJECTIVE:To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS. METHODS:Phenotypic and functional characterization of megakaryocytes and platelets in mutant CoWas mice and patients with WAS with and without autoantibodies was performed. Platelet antigen expression was examined through a protein expression profile and cluster proteomic interaction network. Platelet immunogenicity was tested by using ELISAs and B-cell and platelet cocultures. RESULTS:CoWas mice showed increased megakaryocyte numbers and normal thrombopoiesis in vitro, but WASp-deficient platelets had short lifespan and high expression of activation markers. Proteomic analysis identified signatures compatible with defects in cytoskeletal reorganization and metabolism yet surprisingly increased antigen-processing capabilities. In addition, WASp-deficient platelets expressed high levels of surface and soluble CD40 ligand and were capable of inducing B-cell activation in vitro. WASp-deficient platelets were highly immunostimulatory in mice and triggered the generation of antibodies specific for WASp-deficient platelets, even in the context of a normal immune system. Patients with WAS also showed platelet hyperactivation and increased plasma soluble CD40 ligand levels correlating with the presence of autoantibodies. CONCLUSION:Overall, these findings suggest that intrinsic defects in WASp-deficient platelets decrease their lifespan and dysregulate immune responses, corroborating the role of platelets as modulators of inflammation and immunity.
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- 2018
33. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
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Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
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Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation ,Humans ,Genetic Diseases ,X-Linked ,Diabetes Mellitus ,Type 1 ,Immune System Diseases ,Diarrhea ,Disease-Free Survival ,Hematopoietic Stem Cell Transplantation ,Survival Rate ,Retrospective Studies ,Follow-Up Studies ,Mutation ,Adolescent ,Adult ,Child ,Child ,Preschool ,Infant ,Female ,Male ,Forkhead Transcription Factors ,Allografts ,Immunosuppression Therapy ,FOXP3 ,IPEX ,Treg cells ,enteropathy ,genetic autoimmunity ,hematopoietic stem cell transplantation ,immunosuppression ,neonatal diabetes ,primary immune deficiency ,rapamycin ,Clinical Research ,Stem Cell Research ,Regenerative Medicine ,Pediatric ,Genetics ,Transplantation ,Aetiology ,2.1 Biological and endogenous factors ,Immunology ,Allergy - Abstract
BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
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- 2018
34. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio
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Aiuti, Alessandro, Belot, Alexandre, Bolze, Alexandre, Bondarenko, Anastasiia, Sediva, Anna, Shcherbina, Anna, Planas, Anna M., Condino-Neto, Antonio, Pujol, Aurora, Drolet, Beth A., Catherine, Biggs, Flores, Carlos, Rodríguez-Gallego, Carlos, Prando, Carolina, Dalgard, Clifton L., O'Farrelly, Cliona, Roger, Colobran, Mansouri, Davoud, van de Beek, Diederik, Vinh, Donald C., Hsieh, Elena, Andreakos, Evangelos, Haerynck, Filomeen, Uddin, Furkan, Casari, Giorgio, Novelli, Giuseppe, Pesole, Graziano, Meyts, Isabelle, Tancevski, Ivan, Fellay, Jacques, Casanova, Jean-Laurent, Tur, Jordi, Kisand, Kai, Okamoto, Keisuke, Mironska, Kristina, Abel, Laurent, Renia, Laurent, Ng, Lisa F.P., Shahrooei, Mohammed, Soler-Palacín, Pere, Brodin, Petter, Pan-Hammarström, Qiang, Halwani, Rabih, Perez de Diego, Rebeca, Al-Muhsen, Saleh, Espinosa-Padilla, Sara, Okada, Satoshi, Ozcelik, Tayfun, Tayoun, Ahmad Abou, Karamitros, Timokratis, Mogensen, Trine H., Lau, Yu-Lung, Arkin, Lisa M., Moon, John J., Tran, Jennifer M., Asgari, Samira, O’Farrelly, Cliona, Cowen, Edward W., Mays, Jacqueline W., and Singh, Anne Marie
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- 2021
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35. 16 Bone marrow damage in patients with Adenosine Deaminase 2 Deficiency
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Miano, Maurizio, primary, Lupia, Michela, additional, Giarratana, Maria Carla, additional, Schena, Francesca, additional, Cafaro, Alessia, additional, Barzaghi, Federica, additional, Grossi, Alice, additional, Caorsi, Roberta, additional, Arcuri, Luca, additional, Cangemi, Giuliana, additional, Aiuti, Alessandro, additional, Mortellaro, Alessandra, additional, Dufour, Carlo, additional, and Gattorno, Marco, additional
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- 2024
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36. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
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Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan
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- 2021
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37. Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency
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Zoccolillo, Matteo, Brigida, Immacolata, Barzaghi, Federica, Scala, Serena, Hernández, Raisa Jofra, Basso-Ricci, Luca, Colantuoni, Mariasilvia, Pettinato, Emanuela, Sergi, Lucia Sergi, Milardi, Giulia, Capasso, Paola, Lombardo, Angelo, Gregori, Silvia, Sanvito, Francesca, Schena, Francesca, Cesaro, Simone, Conti, Francesca, Pession, Andrea, Benedetti, Fabio, Gattorno, Marco, Lee, Pui Y., Naldini, Luigi, Cicalese, Maria Pia, Aiuti, Alessandro, and Mortellaro, Alessandra
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- 2021
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38. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
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Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R
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Biomedical and Clinical Sciences ,Immunology ,Human Genome ,Prevention ,Clinical Research ,Genetic Testing ,Genetics ,Rare Diseases ,2.1 Biological and endogenous factors ,Detection ,screening and diagnosis ,4.1 Discovery and preclinical testing of markers and technologies ,Aetiology ,Good Health and Well Being ,Adolescent ,Adult ,Aged ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Female ,Genomics ,High-Throughput Nucleotide Sequencing ,Humans ,Immunologic Deficiency Syndromes ,Infant ,Male ,Middle Aged ,Young Adult ,Primary immunodeficiency disease ,whole-exome sequencing ,copy number variants ,Allergy - Abstract
BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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- 2017
39. Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series
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Naviglio, Samuele, Cicalese, Maria Pia, Rivers, Elizabeth, Ferrua, Francesca, Bonfim, Carmem, Cenciarelli, Sabina, Cheong, Kai-Ning, Faraci, Maura, Giardino, Stefano, Ghosh, Sujal, Lee, Pamela P., Lyra, Paula Teixeira, Meisel, Roland, Sofia, Valentina, Tessitore, Antimo, Tommasini, Alberto, Valencic, Erica, Vallée, Tanja Christine, Volpi, Stefano, Worth, Austen J., Rabusin, Marco, Albert, Michael H., Thrasher, Adrian J., and Aiuti, Alessandro
- Abstract
•Patients with Wiskott-Aldrich syndrome can develop inflammatory manifestations poorly controlled by corticosteroid therapy.•Treatment with anti–IL-1 agents resulted in dramatic responses, suggesting an autoinflammatory pathogenesis.
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- 2024
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40. Retrieval of vector integration sites from cell-free DNA
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Cesana, Daniela, Calabria, Andrea, Rudilosso, Laura, Gallina, Pierangela, Benedicenti, Fabrizio, Spinozzi, Giulio, Schiroli, Giulia, Magnani, Alessandra, Acquati, Serena, Fumagalli, Francesca, Calbi, Valeria, Witzel, Maximilian, Bushman, Frederic D., Cantore, Alessio, Genovese, Pietro, Klein, Christoph, Fischer, Alain, Cavazzana, Marina, Six, Emmanuelle, Aiuti, Alessandro, Naldini, Luigi, and Montini, Eugenio
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- 2021
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41. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
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Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Vallée, 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., Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Vallée, 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., and Albert, Michael H.
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- 2024
42. Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
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Consiglieri, G, Tucci, F, De Pellegrin, M, Guerrini, B, Cattoni, A, Risca, G, Scarparo, S, Sarzana, M, Pontesilli, S, Mellone, R, Gasperini, S, Galimberti, S, Silvani, P, Filisetti, C, Darin, S, Forni, G, Miglietta, S, Santi, L, Facchini, M, Corti, A, Fumagalli, F, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Recupero, S, Canarutto, D, Doglio, M, Tedesco, L, Volpi, N, Rovelli, A, la Marca, G, Valsecchi, M, Zancan, S, Ciceri, F, Naldini, L, Baldoli, C, Parini, R, Gentner, B, Aiuti, A, Bernardo, M, Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, Corti, Ambra, Fumagalli, Francesca, Cicalese, Maria Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Recupero, Salvatore, Canarutto, Daniele, Doglio, Matteo, Tedesco, Lucia, Volpi, Nicola, Rovelli, Attilio, la Marca, Giancarlo, Valsecchi, Maria Grazia, Zancan, Stefano, Ciceri, Fabio, Naldini, Luigi, Baldoli, Cristina, Parini, Rossella, Gentner, Bernhard, Aiuti, Alessandro, Bernardo, Maria Ester, Consiglieri, G, Tucci, F, De Pellegrin, M, Guerrini, B, Cattoni, A, Risca, G, Scarparo, S, Sarzana, M, Pontesilli, S, Mellone, R, Gasperini, S, Galimberti, S, Silvani, P, Filisetti, C, Darin, S, Forni, G, Miglietta, S, Santi, L, Facchini, M, Corti, A, Fumagalli, F, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Recupero, S, Canarutto, D, Doglio, M, Tedesco, L, Volpi, N, Rovelli, A, la Marca, G, Valsecchi, M, Zancan, S, Ciceri, F, Naldini, L, Baldoli, C, Parini, R, Gentner, B, Aiuti, A, Bernardo, M, Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, Corti, Ambra, Fumagalli, Francesca, Cicalese, Maria Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Recupero, Salvatore, Canarutto, Daniele, Doglio, Matteo, Tedesco, Lucia, Volpi, Nicola, Rovelli, Attilio, la Marca, Giancarlo, Valsecchi, Maria Grazia, Zancan, Stefano, Ciceri, Fabio, Naldini, Luigi, Baldoli, Cristina, Parini, Rossella, Gentner, Bernhard, Aiuti, Alessandro, and Bernardo, Maria Ester
- Abstract
Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). Autologous hematopoietic stem progenitor cell-gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394). Clinical (growth, measures of kyphosis and genu velgum), functional (motor function, joint range of motion), and radiological [acetabular index (AI), migration percentage (MP) in hip x-rays and MRIs and spine MRI score] parameters of skeletal dysplasia were evaluated at baseline and multiple time points up to 4 years after treatment. Specific skeletal measures were retrospectively compared with an external cohort of HSCT-treated patients. At a median follow-up of 3.78 years after HSPC-GT, all patients treated with HSPC-GT exhibited longitudinal growth within WHO reference ranges and a median height gain greater than that observed in patients treated with HSCT after 3-year follow-up. Patients receiving HSPC-GT experienced complete and earlier normalization of joint mobility compared with patients treated with HSCT. Mean AI and MP showed progressive decreases after HSPC-GT, suggesting a reduction in acetabular dysplasia. Typical spine alterations measured through a spine MRI score stabilized after HSPC-GT. Clinical, functional, and radiological measures suggested an early beneficial effect of HSPC-GT on MPSIH-typical skeletal features. Longer follow-up is needed to draw definitive conclusions on HSPC-GT's impact on MPSIH skeletal dysplasia.
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- 2024
43. Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity
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Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, 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 Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, 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, Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, 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 Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, 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, and Albert, Michael H
- Abstract
WAS is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% CI 78-87) at 15 years and 70% (61-80) at 30 years of age. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hotspot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared to 71% (62-81) and 48% (34-68) in patients with any other variant (class II; p<0.0001). The cumulative incidence rates of disease-related complications such as severe bleeding (p=0.007), life-threatening infection (p<0.0001), and autoimmunity (p=0.004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (p=0.6) was not different between classes I and II. This study represents the largest cohort of WAS patients studied so far. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of variant is a biomarker to predict the outcome for WAS patients.
- Published
- 2024
44. Gene therapy using haematopoietic stem and progenitor cells
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Ferrari, Giuliana, Thrasher, Adrian J., and Aiuti, Alessandro
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- 2021
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45. Biological Properties of HSC: Scientific Basis for HSCT
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Aiuti, Alessandro, Scala, Serena, Chabannon, Christian, Carreras, Enric, editor, Dufour, Carlo, editor, Mohty, Mohamad, editor, and Kröger, Nicolaus, editor
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- 2019
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46. Treatment with rapamycin can restore regulatory T-cell function in IPEX patients
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Passerini, Laura, Barzaghi, Federica, Curto, Rosalia, Sartirana, Claudia, Barera, Graziano, Tucci, Francesca, Albarello, Luca, Mariani, Alberto, Testoni, Pier Alberto, Bazzigaluppi, Elena, Bosi, Emanuele, Lampasona, Vito, Neth, Olaf, Zama, Daniele, Hoenig, Manfred, Schulz, Ansgar, Seidel, Markus G., Rabbone, Ivana, Olek, Sven, Roncarolo, Maria G., Cicalese, Maria P., Aiuti, Alessandro, and Bacchetta, Rosa
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- 2020
- Full Text
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47. Reduced PD-1 expression on circulating follicular and conventional FOXP3+ Treg cells in children with new onset type 1 diabetes and autoantibody-positive at-risk children
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Vecchione, Andrea, Di Fonte, Roberta, Gerosa, Jolanda, Jofra, Tatiana, Cicalese, Maria Pia, Napoleone, Vincenzo, Ippolito, Elio, Galvani, Giuseppe, Ragogna, Francesca, Stabilini, Angela, Bianconi, Eleonora, Grogan, Pauline, Bonura, Clara, Bonfanti, Riccardo, Frontino, Giulio, Nano, Rita, Melzi, Raffaela, De Pellegrin, Maurizio, Laurenzi, Andrea, Meschi, Franco, Barera, Graziano, Rigamonti, Andrea, Indirli, Rita, Bosi, Emanuele, Piemonti, Lorenzo, Aiuti, Alessandro, Battaglia, Manuela, and Fousteri, Georgia
- Published
- 2020
- Full Text
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48. Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognitive and motor development in early-onset metachromatic leukodystrophy with up to 12 years follow-up
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Fumagalli, Francesca, primary, Calbi, Valeria, additional, De Mattia, Fabiola, additional, Zambon, Alberto Andrea, additional, Gallo, Vera, additional, Recupero, Salvatore, additional, Fratini, Elena Sophia, additional, Ippolito, Alessia, additional, Ciotti, Francesca, additional, Fraschini, Maddalena, additional, Sarzana, Marina, additional, Scarparo, Stefano, additional, Montini, Eugenio, additional, Locatelli, Sara, additional, Facchini, Marcella, additional, Clerici, Alessandra, additional, Morena, Francesco, additional, Martino, Sabata, additional, Yarzi, Muska, additional, Moro, Sean, additional, Shenker, Andrew, additional, Brooks, Jean, additional, Richardson, Alan, additional, Campbell, Laura, additional, and Aiuti, Alessandro, additional
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- 2024
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49. Lentiviral hematopoietic stem cell gene therapy (atidarsagene autotemcel) for late juvenile metachromatic leukodystrophy (MLD)
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Gallo, Vera, primary, Calbi, Valeria, additional, De Mattia, Fabiola, additional, Zambon, Alberto Andrea, additional, Recupero, Salvatore, additional, Fratini, Elena Sophia, additional, Ciotti, Francesca, additional, Fraschini, Maddalena, additional, Sangalli, Mara, additional, Sarzana, Marina, additional, Clerici, Alessandra, additional, Morena, Francesco, additional, Martino, Sabata, additional, Brooks, Jean, additional, Richardson, Alan, additional, Campbell, Laura, additional, Aiuti, Alessandro, additional, and Fumagalli, Francesca, additional
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- 2024
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50. Oncogene-induced senescence in hematopoietic progenitors features myeloid restricted hematopoiesis, chronic inflammation and histiocytosis
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Biavasco, Riccardo, Lettera, Emanuele, Giannetti, Kety, Gilioli, Diego, Beretta, Stefano, Conti, Anastasia, Scala, Serena, Cesana, Daniela, Gallina, Pierangela, Norelli, Margherita, Basso-Ricci, Luca, Bondanza, Attilio, Cavalli, Giulio, Ponzoni, Maurilio, Dagna, Lorenzo, Doglioni, Claudio, Aiuti, Alessandro, Merelli, Ivan, Di Micco, Raffaella, and Montini, Eugenio
- Published
- 2021
- Full Text
- View/download PDF
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