Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation von Cuchet-Lourenço, Delphine, Eletto, Davide, Wu, Changxin, Plagnol, Vincent, Papapietro, Olivier, Curtis, James, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Hackett, Scott, Alsaleem, Badr, Maes, Mailis, Gaspar, Miguel, Alisaac, Ali, Goss, Emma, AlIdrissi, Eman, Siegmund, Daniela, Wajant, Harald, Kumararatne, Dinakantha, AlZahrani, Mofareh S, Arkwright, Peter D, Abinun, Mario, Doffinger, Rainer, Nejentsev, Sergey

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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease von Zhou, Qing, Yu, Xiaomin, Demirkaya, Erkan, Deuitch, Natalie, Stone, Deborah, Tsai, Wanxia Li, Kuehn, Hye Sun, Wang, Hongying, Yang, Dan, Park, Yong Hwan, Ombrello, Amanda K., Blake, Mary, Romeo, Tina, Remmers, Elaine F., Chae, Jae Jin, Mullikin, James C., Güzel, Ferhat, Milner, Joshua D., Boehm, Manfred, Rosenzweig, Sergio D., Gadina, Massimo, Welch, Steven B., Özen, Seza, Topaloglu, Rezan, Abinun, Mario, Kastner, Daniel L., Aksentijevich, Ivona

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Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome von Nademi, Zohreh, PhD, Slatter, Mary A., MD, Dvorak, Christopher C., MD, Neven, Benedicte, PhD, Fischer, Alain, MD, Suarez, Felipe, MD, Booth, Claire, MD, Rao, Kanchan, MD, Laberko, Alexandra, MD, Rodina, Julia, MD, Bertrand, Yves, MD, Kołtan, Sylwia, MD, Dębski, Robert, MD, Flood, Terence, MD, Abinun, Mario, MD, Gennery, Andrew R., MD, Hambleton, Sophie, DPhil, Ehl, Stephan, MD, Cant, Andrew J., MD

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Hematopoietic stem cell transplantation for CTLA4 deficiency von Slatter, Mary A., MD, Engelhardt, Karin R., PhD, Burroughs, Lauri M., MD, Arkwright, Peter D., DPhil, Nademi, Zohreh, PhD, Skoda-Smith, Suzanne, MD, Hagin, David, PhD, Kennedy, Alan, PhD, Barge, Dawn, PhD, Flood, Terence, MD, Abinun, Mario, PhD, Wynn, Robert F., MD, Gennery, Andrew R., MD, Cant, Andrew J., MD, Sansom, David, PhD, Hambleton, Sophie, DPhil, Torgerson, Troy R., MD

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Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome von Harrison, Stephanie C., Tsilifis, Christo, Slatter, Mary A., Nademi, Zohreh, Worth, Austen, Veys, Paul, Ponsford, Mark J., Jolles, Stephen, Al-Herz, Waleed, Flood, Terence, Cant, Andrew J., Doffinger, Rainer, Barcenas-Morales, Gabriela, Carpenter, Ben, Hough, Rachael, Haraldsson, Ásgeir, Heimall, Jennifer, Grimbacher, Bodo, Abinun, Mario, Gennery, Andrew R.

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Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency von Lum, Su Han, Selvarajah, Sabeena, Deya-Martinez, Angela, McNaughton, Peter, Sobh, Ali, Waugh, Sheila, Burton-Fanning, Shirelle, Newton, Lisa, Gandy, Julie, Nademi, Zohreh, Owens, Stephen, Williams, Eleri, Emonts, Marieke, Flood, Terry, Cant, Andrew, Abinun, Mario, Hambleton, Sophie, Gennery, Andrew R., Slatter, Mary

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL von Frattini, Annalisa, Sobacchi, Cristina, Guerrini, Matteo M, Abinun, Mario, Pangrazio, Alessandra, Susani, Lucia, Bredius, Robbert, Mancini, Grazia, Cant, Andrew, Bishop, Nick, Grabowski, Peter, Del Fattore, Andrea, Messina, Chiara, Errigo, Gabriella, Coxon, Fraser P, Scott, Debbie I, Teti, Anna, Rogers, Michael J, Vezzoni, Paolo, Villa, Anna, Helfrich, Miep H

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Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene von Palagano, Eleonora, Slatter, Mary A., Uva, Paolo, Menale, Ciro, Villa, Anna, Abinun, Mario, Sobacchi, Cristina

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Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party von Daikeler, Thomas, Labopin, Myriam, Di Gioia, Massimo, Abinun, Mario, Alexander, Tobias, Miniati, Irene, Gualandi, Francesca, Fassas, Athanasios, Martin, Thierry, Schwarze, Carl Philipp, Wulffraat, Nico, Buch, Maya, Sampol, Antonia, Carreras, Enric, Dubois, Benedicte, Gruhn, Bernd, Güngör, Tayfun, Pohlreich, David, Schuerwegh, Annemie, Snarski, Emilian, Snowden, John, Veys, Paul, Fasth, Anders, Lenhoff, Stig, Messina, Chiara, Voswinkel, Jan, Badoglio, Manuela, Henes, Jörg, Launay, David, Tyndall, Alan, Gluckman, Eliane, Farge, Dominique

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Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99 von Antoine, Corinne, Müller, Susanna, Cant, Andrew, Cavazzana-Calvo, Marina, Veys, Paul, Vossen, Jaak, Fasth, Anders, Heilmann, Carsten, Wulffraat, Nicolas, Seger, Reinhard, Blanche, Stéphane, Friedrich, Wilhelm, Abinun, Mario, Davies, Graham, Bredius, Robert, Schulz, Ansgar, Landais, Paul, Fischer, Alain

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Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency von Lum, Su Han, Elfeky, Reem, Achini, Federica R., Margarit-Soler, Adriana, Cinicola, Bianca, Perez-Heras, Inigo, Nademi, Zohreh, Flood, Terry, Cheetham, Tim, Worth, Austen, Qasim, Waseem, Amin, Rakesh, Rao, Kanchan, Chiesa, Robert, Bredius, Robbert G. M., Amrolia, Persis, Abinun, Mario, Hambleton, Sophie, Veys, Paul, Gennery, Andrew R., Lankester, Arjan, Slatter, Mary

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New autoimmune diseases after cord blood transplantation: a retrospective study of EUROCORD and the Autoimmune Disease Working Party of the European Group for Blood and Marrow Tran... von Daikeler, Thomas, Labopin, Myriam, Ruggeri, Annalisa, Crotta, Alessandro, Abinun, Mario, Hussein, Ayad Ahmed, Carlson, Kristina, Cornillon, Jérôme, Diez-Martin, Jose L., Gandemer, Virginie, Faraci, Maura, Lindemans, Caroline, O'Meara, Anne, Mialou, Valerie, Renard, Marleen, Sedlacek, Petr, Sirvent, Anne, Socié, Gérard, Sora, Federica, Varotto, Stefania, Sanz, Jaime, Voswinkel, Jan, Vora, Ajay, Yesilipek, M. Akif, Herr, Andree-Laure, Gluckman, Eliane, Farge, Dominique, Rocha, Vanderson

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Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis von RAMESH, VENKATESWARAN, BERNARDI, BRUNO, STAFA, ALTIN, GARONE, CATERINA, FRANZONI, EMILIO, ABINUN, MARIO, MITCHELL, PATRICK, MITRA, DIPAYAN, FRISWELL, MARK, NELSON, JOHN, SHALEV, STAVIT A, RICE, GILLIAN I, GORNALL, HANNAH, SZYNKIEWICZ, MARCIN, AYMARD, FRANÇOIS, GANESAN, VIJEYA, PRENDIVILLE, JULIE, LIVINGSTON, JOHN H, CROW, YANICK J

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Autoimmunity in human primary immunodeficiency diseases von Arkwright, Peter D., Abinun, Mario, Cant, Andrew J.

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Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties von Greco, Raffaella, Labopin, Myriam, Badoglio, Manuela, Veys, Paul, Furtado Silva, Juliana M, Abinun, Mario, Gualandi, Francesca, Bornhauser, Martin, Ciceri, Fabio, Saccardi, Riccardo, Lankester, Arjan, Alexander, Tobias, Gennery, Andrew R, Bader, Peter, Farge, Dominique, Snowden, John A

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Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations von Pangrazio, Alessandra, Pusch, Michael, Caldana, Elena, Frattini, Annalisa, Lanino, Edoardo, Tamhankar, Parag M, Phadke, Shubha, Lopez, Antonio Gonzalez Meneses, Orchard, Paul, Mihci, Ercan, Abinun, Mario, Wright, Michael, Vettenranta, Kim, Bariæ, Ivo, Melis, Daniela, Tezcan, Ilhan, Baumann, Clarisse, Locatelli, Franco, Zecca, Marco, Horwitz, Edwin, Mansour, Lamia Sfaihi Ben, Van Roij, Mirjam, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

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ICON: The Early Diagnosis of Congenital Immunodeficiencies von Routes, John, Abinun, Mario, Al-Herz, Waleed, Bustamante, Jacinta, Condino-Neto, Antonio, De La Morena, Maria Teresa, Etzioni, Amos, Gambineri, Eleonora, Haddad, Elie, Kobrynski, Lisa, Le Deist, Francoise, Nonoyama, Shigeaki, Oliveira, Joao Bosco, Perez, Elena, Picard, Capucine, Rezaei, Nima, Sleasman, John, Sullivan, Kathleen E., Torgerson, Troy

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Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis von M. F. Silva, Juliana, Ladomenou, Fani, Carpenter, Ben, Chandra, Sharat, Sedlacek, Petr, Formankova, Renata, Grandage, Vicky, Friswell, Mark, Cant, Andrew J., Nademi, Zohreh, Slatter, Mary A., Gennery, Andrew R., Hambleton, Sophie, Flood, Terence J., Lucchini, Giovanna, Chiesa, Robert, Rao, Kanchan, Amrolia, Persis J., Brogan, Paul, Wedderburn, Lucy R., Glanville, Julie M., Hough, Rachael, Marsh, Rebecca, Abinun, Mario, Veys, Paul

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Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation von Gambineri, Eleonora, MD, Ciullini Mannurita, Sara, MSc, Robertson, Helen, PhD, Vignoli, Marina, PhD, Haugk, Beate, MD, Lionetti, Paolo, MD, PhD, Hambleton, Sophie, MD, PhD, Barge, Dawn, PhD, Gennery, Andrew R., MD, Slatter, Mary, MD, Nademi, Zohreh, MD, Flood, Terence J., MD, Jackson, Anthony, PhD, Abinun, Mario, MD, Cant, Andrew J., MD

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Clinical spectrum of X-linked hyper-IgM syndrome von Levy, Jacov, Espanol-Boren, Teresa, Thomas, Carolin, Fischer, Alain, Tovo, Pierangelo, Bordigoni, Pierre, Resnick, Igor, Fasth, Anders, Baer, Maija, Gomez, Lina, Sanders, E.A.M., Tabone, Marie-Dominique, Plantaz, Dominique, Etzioni, Amos, Monafo, Virginia, Abinun, Mario, Hammarstrom, Lennart, Abrahamsen, Tore, Jones, Allison, Finn, Adam, Klemola, Timo, DeVries, Esther, Sanal, Ozden, Peitsch, Manuel C., Notarangelo, Luigi D.

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