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4. Transition of adolescents living with HIV from pediatric to adult care, a retrospective 12-year Single Center Study from the Sahel Region in West-Africa.

Author

Ouedraogo, Paul, Kanzyemo, Lolita, Razza, Rossana, Pietra, Virginio, Belemsobgom, Eric, and Schumacher, Richard Fabian

Subjects
HIV prevention, HIV infection prognosis, TRANSITIONAL care, RETROSPECTIVE studies, PEDIATRICS, MEDICAL referrals, CD4 lymphocyte count, PSYCHOLOGY of HIV-positive persons, ADOLESCENCE
Abstract

Transition is the next major hurdle in the field of HIV-infected youth, especially in sub-Saharan Africa. At St Camille Hospital in Ouagadougou, fully informed and compliant patients over 13-years-old were eligible for referral to the adult HIV/AIDS service, after completion of an individualized preparatory process. Transition consisted in at least two consecutive "joined-service" appointments in the respective facilities. We retrospectively compared immunological, clinical, and therapeutical data one year before transition, at transition and one year after transition. Between 2008 and 2019 73 patients (34 females, 39 males) were transitioned. All had been previously in pediatric care for at least 1 year and 66 were on HAART. Matched paired analysis of CD4 counts revealed a modest drop in CD4 cells over time (p < 0.05). Clinical data also showed strong fluctuation between WHO clinical stages over the three time points, with a clear trend towards increased severity especially post transfer. This large retrospective 12-year single-center experience from a Sahel country showed a 95.8% retention rate at one year. It demonstrates how a comprehensive plan, carefully implemented, can provide excellent retention, even in a low-resource setting. However, mild immunological decline was associated with a worrisome clinical deterioration, underlining the importance of assessing the latter after transition. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Improved neonatal survival through economically sustainable reorganization of a neonatal care unit in a developing country: 7-year experience in the Centre Medical Saint Camille (CMSC) of Ouagadougou, Burkina Faso

Author

Villani, Paolo Ernesto, Ricchini, Alessandra, Thombiano, Agnes, Ouedraogo, Paul, Cattarelli, Donatella, Chiesi, Maria Paola, Pignatelli, Salvatore, Pietra, Virginio, Beatrice, Autino, Mescoli, Giovanna, and Schumacher, Richard Fabian

Published
2013
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14. Immunodeficiencies

Author

Holland, Steven M., primary, Rosenzweig, Sergio D., additional, Schumacher, Richard-Fabian, additional, and Notarangelo, Luigi, additional

Published
2010
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15. Contributors

Author

Alangaden, George J., primary, Aldape, Michael J., additional, Allardet-Servent, Jérôme, additional, Allen, Upton D., additional, Ammerlaan, Heidi S.M., additional, Angelakis, Emmanouil, additional, Artenstein, Andrew, additional, Asboe, David, additional, Asiedu, Kingsley B., additional, Atherton, John C., additional, Aw, Tar-Ching, additional, Baid-Agrawal, Seema, additional, Bailey, Robin, additional, Bandel, Christopher, additional, Barie, Philip S., additional, Barillo, David J., additional, Bart, Pierre-Alexandre, additional, Bayston, Roger, additional, Beard, C. Ben, additional, Beeching, Nick J., additional, Bégué, Rodolfo E., additional, Benhamou, Yves, additional, Benson, Constance A., additional, Berbari, Elie F., additional, Berendt, Anthony R., additional, Bhatta, Madhav P., additional, Bille, Jacques, additional, Bitnun, Ari, additional, Black, Finn T., additional, Blair, Iain, additional, Blanche, Stéphane, additional, Bleck, Thomas P., additional, Bleeker-Rovers, Chantal P., additional, Bleijenberg, Gijs, additional, Bloch, Karen C., additional, Bonten, Marc J.M., additional, Boucher, Charles A.B., additional, Bourayou, Rafik, additional, Bouza, Emilio S., additional, Bowie, William R., additional, Brause, Barry D., additional, Brisse, Sylvain, additional, Britton, Warwick, additional, Brook, Itzhak, additional, Brown, David W.G., additional, Brun-Buisson, Christian, additional, Brust, James C.M., additional, Bryant, Amy E., additional, Bryskier, André, additional, Buller, R. Mark L, additional, Bush, Karen, additional, Calandra, Thierry, additional, Cameron, D. William, additional, Caraël, Michel, additional, Carr, Michael J., additional, Casas, Inmaculada, additional, Chambers, Stephen T., additional, Chiller, Katarina G., additional, Chiller, Tom M., additional, Chiodini, Peter L., additional, Chopra, Ian, additional, Chu, Anthony C., additional, Chung, Kevin K., additional, Clark, Benjamin M., additional, Clumeck, Nathan, additional, Cockerell, Clay J., additional, Cohen, Jonathan, additional, Collinge, John, additional, Conlon, Christopher P., additional, Corey, G. Ralph, additional, Cross, Alan, additional, Cross, John H., additional, Currier, Judith, additional, Curtis, Carmel M., additional, Dallabetta, Gina, additional, Davidson, Robert N., additional, Davies, Jane, additional, Day, Jeremy, additional, Day, Nicholas P.J., additional, De Gascun, Cillian F., additional, de Wit, Stéphane, additional, Delmont, Jean, additional, Dennis, David T., additional, Diemert, David J., additional, Doganay, Mehmet, additional, Doherty, Tom, additional, Dolecek, Christiane, additional, Donati, Stéphane Y., additional, Dondorp, Arjen M., additional, Doudier, Barbara, additional, Drancourt, Michel, additional, Drekonja, Dimitri M., additional, Drew, Richard H., additional, Duker, Jay S., additional, Dummer, J. Stephen, additional, Edwards, Charles N., additional, Ekkelenkamp, Miquel B., additional, Enright, Mark C., additional, Epstein, Paul R., additional, Erard, Veronique, additional, Eziefula, Alice Chijioke, additional, Feinberg, Mark B., additional, Fenollar, Florence, additional, Fenwick, Alan, additional, Fernandez, Luis, additional, Fierer, Joshua, additional, Finch, Roger G., additional, Flexner, Charles W., additional, Fluit, Ad C., additional, Ford-Jones, Elizabeth Lee, additional, Fournier, Pierre-Edouard, additional, Fraser, Victoria, additional, French, Martyn A., additional, Friedland, Jon S., additional, Fritz, Joseph M., additional, Furuya, E. Yoko, additional, Gage, Kenneth L., additional, Garcia, Lynne S., additional, Gastañaduy, Arturo S., additional, Ghanem, Khalil G., additional, Giannella, Maddalena, additional, Glaser, Carol A., additional, Glesby, Marshall J., additional, Glover, Sarah, additional, Glupczynski, Youri, additional, Gnann, John W., additional, Goddard, Andrew F., additional, Goldstein, Ellie J.C., additional, González, Iveth J., additional, Gorbach, Sherwood L., additional, Gottstein, Bruno, additional, Gowda, Ravi, additional, Grabenstein, John D., additional, Grange, John M., additional, Green, Michael D., additional, Green, Stephen T., additional, Greenblatt, Danielle T., additional, Greenwood, Brian, additional, Gregson, Aric L., additional, Groll, Andreas H., additional, Gupta, Aditya K., additional, Gwee, Kok-Ann, additional, Hall, William, additional, Hammer, Scott M., additional, Handa, Sajeev, additional, Hanfelt-Goade, Diane, additional, Harari, Alexandre, additional, Harris, Marianne, additional, Hartman, Barry J., additional, Hay, Roderick J., additional, Henderson, David K., additional, Hensley, Lisa E., additional, Herbert, Luke, additional, Hill, David R., additional, Hills, Timothy J., additional, Hinze, John David, additional, Hirsch, Hans H., additional, Hirschel, Bernard, additional, Hoepelman, Andy I.M., additional, Holland, Steven M., additional, Horgan, Mary M., additional, Howe, Robin, additional, Hughes, James M., additional, Hull, Mark W., additional, Inderlied, Clark B., additional, Ison, Michael G., additional, Jenks, Peter J., additional, Johnson, James R., additional, Jones, Theodore, additional, Kanno, Mettassebia, additional, Kauffman, Carol, additional, Kelly, Patrick, additional, Kendler, Jason S., additional, Keynan, Yoav, additional, Khan, Ali S., additional, Kho, Grace T., additional, Kinghorn, George R., additional, Klapper, Paul E., additional, Kluytmans, Jan AJW, additional, Kok, Menno, additional, Koné-Paut, Isabelle, additional, Krieger, John N., additional, Kroes, Aloys C.M., additional, Kroon, Frank P., additional, Kubin, Christine J., additional, La Rosa, Alberto M., additional, Lalani, Tahaniyat, additional, Lalloo, David G., additional, Lambert, Harold, additional, Landraud, Luce, additional, Lawn, Stephen D., additional, Pharm, Phillipe Lehours, additional, Leone, Marc, additional, Levi, Itzchak, additional, Levitt, Alexandra M., additional, Lindquist, H. D. Alan, additional, Lloyd, Graham, additional, Looney, David J., additional, Lowy, Franklin D., additional, Luft, Benjamin J., additional, Lynn, William A., additional, Macielag, Mark J., additional, Mackowiak, Philip A., additional, MacPherson, Paul A., additional, Maghraoui-Slim, Valérie, additional, Main, Janice, additional, Mallet, Vincent, additional, Mangino, Julie E., additional, Manuel, Oriol, additional, Marchetti, Oscar, additional, Marks, Kristen, additional, Marr, Kieren A., additional, Martin, Claude, additional, Martín-Rabadán, Pablo, additional, Martinez, Augusto Julio, additional, Mascini, Ellen M., additional, Mayer, Kenneth H., additional, McCormick, Joseph B., additional, McGready, Rose, additional, McKendrick, Michael W., additional, Mead, Simon, additional, Mégraud, Francis, additional, Meheus, André Z., additional, Meintjes, Graeme, additional, Michaels, Marian G., additional, Miles, Michael, additional, Miller, Alastair, additional, Mimiaga, Matthew J., additional, Mingeot-Leclercq, Marie-Paule, additional, Mitchell, Thomas G., additional, Moise, Pamela A., additional, Montaner, Julio, additional, Moore, Caroline B., additional, Moreillon, Philippe, additional, Morgan-Capner, Peter, additional, Montessori, Valentina, additional, Moss, Peter, additional, Muñoz, Patricia, additional, Naber, Kurt G., additional, Nakhla, Sammy, additional, Narain, Jai P., additional, Nathwani, Dilip, additional, Newton, Paul, additional, Nguyen, Chinh, additional, Nicolle, Lindsay E., additional, Niederman, Michael S., additional, Noel, Gary J., additional, Norrby, S. Ragnar, additional, Nosten, François, additional, Notarangelo, Luigi Daniele, additional, Nyirjesy, Paul, additional, O'Connell, P. Ronan, additional, Odorico, Jon S., additional, Ong, Edmund L.C., additional, Opal, Steven M., additional, Ormerod, L. Peter, additional, Osmon, Douglas R., additional, Ottesen, Eric A., additional, Palacios, Gustavo, additional, Pantaleo, Giuseppe, additional, Papazian, Laurent, additional, Parola, Philippe, additional, Pascual, Manuel A., additional, Patrozou, Eleni, additional, Paya, Carlos, additional, Peacock, Sharon J., additional, Pechère, Jean-Claude, additional, Perkins, Mark D., additional, Peters, Barry, additional, Pfyffer, Gaby E., additional, Pham, Paul A., additional, Piot, Peter, additional, Placko-Parola, Geraldine, additional, Pol, Stainslas, additional, Posfay-Barbe, Klara M., additional, Powderly, William G., additional, Pozniak, Anton, additional, Prod'hom, Guy, additional, Quinn, Thomas C., additional, Rahn, Daniel W., additional, Rana, Aadia I., additional, Raoult, Didier, additional, Raz, Raul, additional, Razonable, Raymund, additional, Read, Robert C., additional, Reynolds, Stephen J., additional, Richardson, Malcolm D., additional, Robinson, Christopher C., additional, Rooijakkers, Suzan H.M., additional, Rosenbluth, Daniel, additional, Rosenzweig, Sergio D., additional, Rovery, Clarisse, additional, Rubin, Robert H., additional, Rubinovitch, Bina, additional, Rubins, Kathleen H., additional, Rubinstein, Ethan, additional, Ryan, Greg, additional, Ryder, Stephen, additional, Safren, Steven, additional, Sahasrabuddhe, Vikrant V., additional, Saikku, Pekka A.I., additional, Sakoulas, George, additional, Salazar, Juan Carlos, additional, Salvaggio, Michelle R., additional, Schaffer, Kirsten, additional, Schmitz, Franz-Josef, additional, Schooley, Robert T., additional, Schumacher, Richard-Fabian, additional, Scrimgeour, Euan M., additional, Seddon, James, additional, Seifert, Harald, additional, Serjeant, Graham R., additional, Sha, Beverly E., additional, Shah, Keerti V., additional, Shapiro, Daniel S., additional, Sheehan, Gerard, additional, Shoham, Shmuel, additional, Simmons, Cameron P., additional, Simonsen, Kari A., additional, Singh, Neeraj, additional, Slack, Mary P.E., additional, Sobel, Jack D., additional, Sopirala, Madhuri M., additional, Spacek, Lisa A., additional, Sriskandan, Shiranee, additional, Stanley, Samuel L., additional, Steckelberg, James M., additional, Stephenson, Iain, additional, Stevens, Dennis L., additional, Straus, Walter L., additional, Sturm, Willem, additional, Summerbell, Richard C., additional, Susa, Joseph S., additional, Tabrizi, Sarah J., additional, Tack, Marc A., additional, Taplitz, Randy, additional, Tebas, Pablo, additional, Temmerman, Marleen, additional, Thijsen, Steven F.T., additional, Thomas, Lora D., additional, Thomson, Gail, additional, Thwaites, Guy E., additional, Tirelli, Umberto, additional, Tolkoff-Rubin, Nina E., additional, Tønjum, Tone, additional, Torriani, Francesca J., additional, Townsend, Gregory C., additional, Masó, Gloria Trallero, additional, Tulkens, Paul M., additional, Tunkel, Allan R., additional, Vaccher, Emanuela, additional, Vallet-Pichard, Anaïs, additional, Van Bambeke, Françoise, additional, van de Beek, Diederik, additional, van der Meer, Jos W.M., additional, van Loon, Anton M., additional, van Putten, Jos, additional, Vaudaux, Bernard P., additional, Vermund, Sten H., additional, Verstraelen, Hans, additional, Verweij, Paul, additional, Viscidi, Raphael P., additional, Visvanathan, Kumar, additional, Visvesvara, Govinda S., additional, von Seidlein, Lorenz, additional, Wagenlehner, Florian M.E., additional, Wahl-Jensen, Victoria, additional, Walsh, Thomas J., additional, Warhurst, David C., additional, Warnock, David W., additional, Warrell, David A., additional, Warrell, Mary J., additional, Warris, Adilia, additional, Weber, Rainer, additional, Weidner, Wolfgang, additional, Weston, Vivienne C., additional, Whimbey, Estella, additional, Whitby, Michael, additional, White, Peter J., additional, Whitty, Christopher J.M., additional, Willems, Rob J.L., additional, Williams, Emrys, additional, Wilson, Cara, additional, Wilson, Mary E., additional, Winn, Richard E., additional, Winthrop, Kevin L., additional, Wiselka, Martin J., additional, Wisplinghoff, Hilmar, additional, Wolfe, Cameron R., additional, Wood, Robin, additional, Wright, Natalie, additional, Yankaskas, James R., additional, Zaidi, Najam A., additional, Zenilman, Jonathan M., additional, Zhang, Yaobi, additional, Zuckerman, Arie J., additional, Zuckerman, Jane Nicola, additional, and Zumla, Alimuddin, additional

Published
2010
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18. Children with cancer in the time of COVID‐19: An 8‐week report from the six pediatric onco‐hematology centers in Lombardia, Italy

Author

Ferrari, Andrea, primary, Zecca, Marco, additional, Rizzari, Carmelo, additional, Porta, Fulvio, additional, Provenzi, Massimo, additional, Marinoni, Maddalena, additional, Schumacher, Richard Fabian, additional, Luksch, Roberto, additional, Terenziani, Monica, additional, Casanova, Michela, additional, Spreafico, Filippo, additional, Chiaravalli, Stefano, additional, Compagno, Francesca, additional, Bruni, Federica, additional, Piccolo, Chiara, additional, Bettini, Laura, additional, D'Angiò, Mariella, additional, Ferrari, Giulia Maria, additional, Biondi, Andrea, additional, Massimino, Maura, additional, and Balduzzi, Adriana, additional

Published
2020
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19. Children with cancer in the time of COVID-19: An 8-week report from the six pediatric onco-hematology centers in Lombardia, Italy

Author

Ferrari, A, Zecca, M, Rizzari, C, Porta, F, Provenzi, M, Marinoni, M, Schumacher, R, Luksch, R, Terenziani, M, Casanova, M, Spreafico, F, Chiaravalli, S, Compagno, F, Bruni, F, Piccolo, C, Bettini, L, D'Angiò, M, Ferrari, G, Biondi, A, Massimino, M, Balduzzi, A, Ferrari, Andrea, Zecca, Marco, Rizzari, Carmelo, Porta, Fulvio, Provenzi, Massimo, Marinoni, Maddalena, Schumacher, Richard Fabian, Luksch, Roberto, Terenziani, Monica, Casanova, Michela, Spreafico, Filippo, Chiaravalli, Stefano, Compagno, Francesca, Bruni, Federica, Piccolo, Chiara, Bettini, Laura, D'Angiò, Mariella, Ferrari, Giulia Maria, Biondi, Andrea, Massimino, Maura, Balduzzi, Adriana, Ferrari, A, Zecca, M, Rizzari, C, Porta, F, Provenzi, M, Marinoni, M, Schumacher, R, Luksch, R, Terenziani, M, Casanova, M, Spreafico, F, Chiaravalli, S, Compagno, F, Bruni, F, Piccolo, C, Bettini, L, D'Angiò, M, Ferrari, G, Biondi, A, Massimino, M, Balduzzi, A, Ferrari, Andrea, Zecca, Marco, Rizzari, Carmelo, Porta, Fulvio, Provenzi, Massimo, Marinoni, Maddalena, Schumacher, Richard Fabian, Luksch, Roberto, Terenziani, Monica, Casanova, Michela, Spreafico, Filippo, Chiaravalli, Stefano, Compagno, Francesca, Bruni, Federica, Piccolo, Chiara, Bettini, Laura, D'Angiò, Mariella, Ferrari, Giulia Maria, Biondi, Andrea, Massimino, Maura, and Balduzzi, Adriana

Published
2020

20. Neuroblastoma With Symptomatic Spinal Cord Compression at Diagnosis: Treatment and Results With 76 Cases

Author

De Bernardi, Bruno, Pianca, Clotilde, Pistamiglio, Paola, Veneselli, Edvige, Viscardi, Elisabetta, Pession, Andrea, Alvisi, Patrizia, Carli, Modesto, Donfrancesco, Alberto, Casale, Fiorina, Giuliano, Maria Grazia, di Montezemolo, Luca Cordero, Di Cataldo, Andrea, Lo Curto, Margherita, Bagnulo, Serenella, Schumacher, Richard Fabian, Tamburini, Angela, Garaventa, Alberto, Clemente, Luigi, and Bruzzi, Paolo

Published
2001

21. q11) Rearranged Human Cell Line as a Model for Mechanistic and Drug Discovery Studies of NOTCH1-Independent Human T-Cell Leukemia

Author

Tosello, Valeria, Milani, Gloria, Martines, Annalisa, Macri, Nadia, Loocke, Wouder Van, Matthijssens, Filip, Buldini, Barbara, Minuzzo, Sonia, Bongiovanni, Deborah, Schumacher, Richard Fabian, Amadori, Alberto, Vlierberghe, Pieter Van, and Piovan, Erich

Subjects
hemic and lymphatic diseases, BRD4 inhibition, super-enhancers, T-lineage acute lymphoblastic leukemia, targeted therapy, MYC-translocated leukemia, NOTCH1-independent
Abstract

MYC-translocated T-lineage acute lymphoblastic leukemia (T-ALL) is a rare subgroup of T-ALL associated with CDKN2A/B deletions, PTEN inactivation, and absence of NOTCH1 or FBXW7 mutations. This subtype of T-ALL has been associated with induction failure and aggressive disease. Identification of drug targets and mechanistic insights for this disease are still limited. Here, we established a human NOTCH1-independent MYC-translocated T-ALL cell line that maintains the genetic and phenotypic characteristics of the parental leukemic clone at diagnosis. The University of Padua T-cell acute lymphoblastic leukemia 13 (UP-ALL13) cell line has all the main features of the above described MYC-translocated T-ALL. Interestingly, UP-ALL13 was found to harbor a heterozygous R882H DNMT3A mutation typically found in myeloid leukemia. Chromatin immunoprecipitation coupled with high-throughput sequencing for histone H3 lysine 27 (H3K27) acetylation revealed numerous putative super-enhancers near key transcription factors, including MYC, MYB, and LEF1. Marked cytotoxicity was found following bromodomain-containing protein 4 (BRD4) inhibition with AZD5153, suggesting a strict dependency of this particular subtype of T-ALL on the activity of super-enhancers. Altogether, this cell line may be a useful model system for dissecting the signaling pathways implicated in NOTCH1-independent T-ALL and for the screening of targeted anti-leukemia agents specific for this T-ALL subgroup.

Published
2018
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22. Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

Author

De Francesco, Maria Antonia, primary, Ianiro, Giovanni, additional, Monini, Marina, additional, Vezzoli, Cesare, additional, Schumacher, Richard Fabian, additional, Giliani, Silvia, additional, Lorenzin, Giovanni, additional, Gurrieri, Francesca, additional, and Caruso, Arnaldo, additional

Published
2019
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25. Possible Impact of COVID-19 on Children in Africa, Reflections from Italy and Burkina Faso.

Author

Ouedraogo, Paul and Schumacher, Richard Fabian

Subjects
*COVID-19, *SARS-CoV-2, *PANDEMICS
Abstract

Africa is the World Health Organization-region least affected by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic. Here, we compare the situation in severely hit Italy with that in less hit Burkina Faso, focussing on the differences in epidemiological, geographical, demographical, cultural and medical conditions to highlight how a full-blown war on the pandemic can impact on other, equally important aspects of global child health. [ABSTRACT FROM AUTHOR]

Published
2021
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28. Improved neonatal survival through economically sustainable reorganization of a neonatal care unit in a developing country: 7-year experience in the Centre Medical Saint Camille (CMSC) of Ouagadougou, Burkina Faso

Author

Villani, Paolo Ernesto, primary, Ricchini, Alessandra, additional, Thombiano, Agnes, additional, Ouedraogo, Paul, additional, Cattarelli, Donatella, additional, Chiesi, Maria Paola, additional, Pignatelli, Salvatore, additional, Pietra, Virginio, additional, Beatrice, Autino, additional, Mescoli, Giovanna, additional, and Schumacher, Richard Fabian, additional

Published
2012
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32. Application and implementation of the GINA asthma guidelines by specialist and primary care physicians: a longitudinal follow-up study on 264 children

Author

Guarnaccia, Sebastiano, primary, Lombardi, Andrea, additional, Gaffurini, Alessandro, additional, Chiarini, Mariateresa, additional, Domenighini, Serena, additional, D'Agata, Emanuele, additional, Schumacher, Richard Fabian, additional, Spiazzi, Raffaele, additional, and Notarangelo, Luigi D, additional

Published
2007
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35. Analysis of Cytomegalovirus Gene Expression by Transfection.

Author

Walker, John M., Sinclair, John, Colberg-Poley, Anamaris M., Soltero, Vera E., and Schumacher, Richard-Fabian

Abstract

Human cytomegalovirus (HCMV), a human herpesvirus, is the leading viral cause of birth defects (1,2). In acquired immune deficiency syndrome (AIDS) patients, HCMV can cause severely debilitating colitis and retinitis; it is now an increasingly common cause of life-threatening pneumonitis in transplant patients (3-5). HCMV has a severely restricted host range in culture. It grows efficiently only in primary human diploid fibroblasts (HFF) and a few selected human cell lines (6-9). Monocytes serve as a major reservoir of latent HCMV in humans and HCMV can be grown in vitro in primary monocyte-derived macrophages (M/M) (10-14). [ABSTRACT FROM AUTHOR]

Published
2000
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37. Improved neonatal survival through economically sustainable reorganization of a neonatal care unit in a developing country: 7-year experience in the Centre Medical Saint Camille (CMSC) of Ouagadougou, Burkina Faso.

Author

Villani, Paolo Ernesto, Ricchini, Alessandra, Thombiano, Agnes, Ouedraogo, Paul, Cattarelli, Donatella, Chiesi, Maria Paola, Pignatelli, Salvatore, Pietra, Virginio, Beatrice, Autino, Mescoli, Giovanna, and Schumacher, Richard Fabian

Published
2013
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38. A Novel t(8;14)(q24;q11) Rearranged Human Cell Line as a Model for Mechanistic and Drug Discovery Studies of NOTCH1-Independent Human T-Cell Leukemia.

Author

Tosello, Valeria, Milani, Gloria, Martines, Annalisa, Macri, Nadia, Van Loocke, Wouder, Matthijssens, Filip, Buldini, Barbara, Minuzzo, Sonia, Bongiovanni, Deborah, Schumacher, Richard Fabian, Amadori, Alberto, Van Vlierberghe, Pieter, and Piovan, Erich

Subjects
LYMPHOBLASTIC leukemia, MYELOID leukemia, CELL-mediated cytotoxicity, GENETIC mutation, IMMUNOPRECIPITATION, HUMAN chromatin
Abstract

MYC-translocated T-lineage acute lymphoblastic leukemia (T-ALL) is a rare subgroup of T-ALL associated with CDKN2A/B deletions, PTEN inactivation, and absence of NOTCH1 or FBXW7 mutations. This subtype of T-ALL has been associated with induction failure and aggressive disease. Identification of drug targets and mechanistic insights for this disease are still limited. Here, we established a human NOTCH1-independent MYC-translocated T-ALL cell line that maintains the genetic and phenotypic characteristics of the parental leukemic clone at diagnosis. The University of Padua T-cell acute lymphoblastic leukemia 13 (UP-ALL13) cell line has all the main features of the above described MYC-translocated T-ALL. Interestingly, UP-ALL13 was found to harbor a heterozygous R882H DNMT3A mutation typically found in myeloid leukemia. Chromatin immunoprecipitation coupled with high-throughput sequencing for histone H3 lysine 27 (H3K27) acetylation revealed numerous putative super-enhancers near key transcription factors, including MYC, MYB, and LEF1. Marked cytotoxicity was found following bromodomain-containing protein 4 (BRD4) inhibition with AZD5153, suggesting a strict dependency of this particular subtype of T-ALL on the activity of super-enhancers. Altogether, this cell line may be a useful model system for dissecting the signaling pathways implicated in NOTCH1-independent T-ALL and for the screening of targeted anti-leukemia agents specific for this T-ALL subgroup. [ABSTRACT FROM AUTHOR]

Published
2018
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41. Contributors

Author

Alangaden, George J., Aldape, Michael J., Allardet-Servent, Jérôme, Allen, Upton D., Ammerlaan, Heidi S.M., Angelakis, Emmanouil, Artenstein, Andrew, Asboe, David, Asiedu, Kingsley B., Atherton, John C., Aw, Tar-Ching, Baid-Agrawal, Seema, Bailey, Robin, Bandel, Christopher, Barie, Philip S., Barillo, David J., Bart, Pierre-Alexandre, Bayston, Roger, Beard, C. Ben, Beeching, Nick J., Bégué, Rodolfo E., Benhamou, Yves, Benson, Constance A., Berbari, Elie F., Berendt, Anthony R., Bhatta, Madhav P., Bille, Jacques, Bitnun, Ari, Black, Finn T., Blair, Iain, Blanche, Stéphane, Bleck, Thomas P., Bleeker-Rovers, Chantal P., Bleijenberg, Gijs, Bloch, Karen C., Bonten, Marc J.M., Boucher, Charles A.B., Bourayou, Rafik, Bouza, Emilio S., Bowie, William R., Brause, Barry D., Brisse, Sylvain, Britton, Warwick, Brook, Itzhak, Brown, David W.G., Brun-Buisson, Christian, Brust, James C.M., Bryant, Amy E., Bryskier, André, Buller, R. Mark L, Bush, Karen, Calandra, Thierry, Cameron, D. William, Caraël, Michel, Carr, Michael J., Casas, Inmaculada, Chambers, Stephen T., Chiller, Katarina G., Chiller, Tom M., Chiodini, Peter L., Chopra, Ian, Chu, Anthony C., Chung, Kevin K., Clark, Benjamin M., Clumeck, Nathan, Cockerell, Clay J., Cohen, Jonathan, Collinge, John, Conlon, Christopher P., Corey, G. Ralph, Cross, Alan, Cross, John H., Currier, Judith, Curtis, Carmel M., Dallabetta, Gina, Davidson, Robert N., Davies, Jane, Day, Jeremy, Day, Nicholas P.J., De Gascun, Cillian F., de Wit, Stéphane, Delmont, Jean, Dennis, David T., Diemert, David J., Doganay, Mehmet, Doherty, Tom, Dolecek, Christiane, Donati, Stéphane Y., Dondorp, Arjen M., Doudier, Barbara, Drancourt, Michel, Drekonja, Dimitri M., Drew, Richard H., Duker, Jay S., Dummer, J. Stephen, Edwards, Charles N., Ekkelenkamp, Miquel B., Enright, Mark C., Epstein, Paul R., Erard, Veronique, Eziefula, Alice Chijioke, Feinberg, Mark B., Fenollar, Florence, Fenwick, Alan, Fernandez, Luis, Fierer, Joshua, Finch, Roger G., Flexner, Charles W., Fluit, Ad C., Ford-Jones, Elizabeth Lee, Fournier, Pierre-Edouard, Fraser, Victoria, French, Martyn A., Friedland, Jon S., Fritz, Joseph M., Furuya, E. 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42. A Novel t(8;14)(q24;q11) Rearranged Human Cell Line as a Model for Mechanistic and Drug Discovery Studies of NOTCH1-Independent Human T-Cell Leukemia

Author

Deborah Bongiovanni, Gloria Milani, Annalisa Martines, Alberto Amadori, Pieter Van Vlierberghe, Wouder Van Loocke, Sonia Minuzzo, Filip Matthijssens, Barbara Buldini, Valeria Tosello, Erich Piovan, Nadia Macri, Richard Fabian Schumacher, Tosello, Valeria, Milani, Gloria, Martines, Annalisa, Macri, Nadia, Van Loocke, Wouder, Matthijssens, Filip, Buldini, Barbara, Minuzzo, Sonia, Bongiovanni, Deborah, Schumacher, Richard Fabian, Amadori, Alberto, Van Vlierberghe, Pieter, and Piovan, Erich

Subjects
0301 basic medicine, BRD4, Clone (cell biology), INHIBITION, MYC, medicine.disease_cause, ONCOGENES, Article, ACTIVATION, 03 medical and health sciences, Histone H3, RELEVANCE, hemic and lymphatic diseases, super-enhancer, BRD4 inhibition, medicine, Medicine and Health Sciences, PTEN, Transcription factor, lcsh:QH301-705.5, NOTCH1-independent, Mutation, biology, THERAPEUTIC TARGET, MUTATIONS, super-enhancers, Myeloid leukemia, Biology and Life Sciences, General Medicine, targeted therapy, CANCER, NOTCH, 030104 developmental biology, lcsh:Biology (General), Cancer research, biology.protein, DNMT3A, MYC-translocated leukemia, T-lineage acute lymphoblastic leukemia, Chromatin immunoprecipitation
Abstract

MYC-translocated T-lineage acute lymphoblastic leukemia (T-ALL) is a rare subgroup of T-ALL associated with CDKN2A/B deletions, PTEN inactivation, and absence of NOTCH1 or FBXW7 mutations. This subtype of T-ALL has been associated with induction failure and aggressive disease. Identification of drug targets and mechanistic insights for this disease are still limited. Here, we established a human NOTCH1-independent MYC-translocated T-ALL cell line that maintains the genetic and phenotypic characteristics of the parental leukemic clone at diagnosis. The University of Padua T-cell acute lymphoblastic leukemia 13 (UP-ALL13) cell line has all the main features of the above described MYC-translocated T-ALL. Interestingly, UP-ALL13 was found to harbor a heterozygous R882H DNMT3A mutation typically found in myeloid leukemia. Chromatin immunoprecipitation coupled with high-throughput sequencing for histone H3 lysine 27 (H3K27) acetylation revealed numerous putative super-enhancers near key transcription factors, including MYC, MYB, and LEF1. Marked cytotoxicity was found following bromodomain-containing protein 4 (BRD4) inhibition with AZD5153, suggesting a strict dependency of this particular subtype of T-ALL on the activity of super-enhancers. Altogether, this cell line may be a useful model system for dissecting the signaling pathways implicated in NOTCH1-independent T-ALL and for the screening of targeted anti-leukemia agents specific for this T-ALL subgroup.

Published
2018

43. BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Author

Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, and Notarangelo LD

Subjects
Agammaglobulinaemia Tyrosine Kinase, Agammaglobulinemia diagnosis, Chromosome Deletion, Europe, Exons genetics, Genetic Diseases, X-Linked diagnosis, Humans, Male, Recurrence, Agammaglobulinemia genetics, Genetic Diseases, X-Linked genetics, Mutation genetics, Protein-Tyrosine Kinases genetics
Abstract

X linked agammaglobulinemia (XLA) is an immunodeficiency disease caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK), that is involved in signal transduction pathways regulating survival, activation, proliferation, and differentiation of B lineage lymphoid cells. XLA is a primary immunodeficiency disorder characterized by lack of mature, circulating B lymphocytes, and recurrent infections. Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing we investigated 57 patients with XLA phenotype, with or without a positive family history, from 52 unrelated families enrolled in the Italian XLA Multicenter Clinical Study. We have identified 25 recurrent mutations, 22 novel mutations including one large deletion comprising the coding sequence from exon 11 to 18. Among the mutations identified, three were detected in different unrelated families, whereas all the others were private mutations., (Copyright 2004 Wiley-Liss, Inc.)

Published
2004
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44. Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.

Author

Schumacher RF and Notarangelo LD

Subjects
Female, Humans, Infant, Newborn, Interleukin Receptor Common gamma Subunit, Janus Kinase 3, Male, Severe Combined Immunodeficiency therapy, Protein-Tyrosine Kinases genetics, Protein-Tyrosine Kinases physiology, Receptors, Interleukin-7 genetics, Receptors, Interleukin-7 physiology, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency physiopathology, Signal Transduction genetics, Signal Transduction physiology
Published
2002

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