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205 results on '"Giardino, Stefano"'

1. Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity

Author

Lum, Su Han, Albert, Michael H., Gilbert, Patrick, Sirait, Tiarlan, Algeri, Mattia, Muratori, Rafaella, Fournier, Benjamin, Laberko, Alexandra, Karakukcu, Musa, Unal, Elrem, Ayas, Mouhab, Yadav, Satya Prakash, Fisgin, Tunc, Elfeky, Reem, Fernandes, Juliana, Faraci, Maura, Cole, Theresa, Schulz, Ansgar, Meisel, Roland, Zecca, Marco, Ifversen, Marianne, Biffi, Alessandra, Diana, Jean-Sebastien, Vallée, Tanja, Giardino, Stefano, Ersoy, Gizem Zengin, Moshous, Despina, Gennery, Andrew R., Balashov, Dmitry, Bonfim, Carmem, Locatelli, Franco, Lankester, Arjan, Neven, Bénédicte, and Slatter, Mary

Published
2024
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4. Epstein–Barr virus reactivation in pediatric allogeneic stem cell transplant recipients: an 11-year experience on viral load and B lymphocyte monitoring strategy.

Author

Ferrando, Giulia, Bagnasco, Francesca, Pierri, Filomena, Pestarino, Sara, Dell'Orso, Gianluca, Giardino, Stefano, Di Marco, Eddi, Santaniello, Maria, Castagnola, Elio, and Faraci, Maura

Subjects
HEMATOPOIETIC stem cell transplantation, STEM cell transplantation, B cells, CHILD patients, VIRUS reactivation
Abstract

Background: Epstein–Barr virus (EBV) reactivation represents a frequent condition after allogeneic hematopoietic stem cell transplantation (allo-HCT) and can cause the development of a severe complication: post-transplant lymphoproliferative disease (PTLD). This retrospective study aims at investigating the incidence of EBV reactivations and analyzing the potential impact of recipient/donor-related transplant-related factors in pediatric patients. The secondary objective was to study the consequences of the approach used at our center regarding the initiation of pre-emptive therapy. Methods: This study used a retrospective evaluation of patients aged ≤25 years who received an allo-HCT at IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Giannina Gaslini, between 2012 and 2022, with follow-up censored in July 2023. Criteria to start rituximab were as follows: a viral load ≥20,000 copies/105 PBMCs or ≥10,000/105 PBMCs associated with a rise in the proportion of CD 20+ lymphocytes. Results: Overall, 214 allo-HCTs were performed in 189 patients. A total of 127 (59.3%) procedures were complicated by at least one EBV reactivation, but in only one rituximab was administered. All other reactivations were characterized by viremia below reference ranges and no increase in CD20+ lymphocytes, without clinical consequences. Risk factors for EBV reactivation identified were associated with delayed immune reconstitution. Conclusion: These results could suggest the effectiveness of the approach used in providing pre-emptive therapy. The strategy adopted differs from that highlighted by other studies and allowed the reduction of the number of children who received rituximab. It has proven effective considering the low incidence rate of PTLD and reduces the risk of rituximab-related adverse events. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Monitoring and Management of Cytomegalovirus Reactivations After Allogeneic Hematopoietic Stem Cell Transplantation in Children: Experience from a Single Pediatric Center.

Author

Ferrando, Giulia, Bagnasco, Francesca, Giardino, Stefano, Pierri, Filomena, Pestarino, Sara, Di Marco, Eddi, Santaniello, Maria, Castagnola, Elio, and Faraci, Maura

Subjects
VIRUS diseases, VIRAL load, IMMUNOSUPPRESSIVE agents, CYTOMEGALOVIRUSES, HEMATOPOIETIC stem cell transplantation, STEM cell transplantation, VIREMIA
Abstract

Background: CMV reactivation represents a frequent complication after HSCT. The aim of this study was to describe the incidence of CMV reactivation in a pediatric HSCT cohort and analyze the potential impact of recipient/donor-related or transplant-related factors on this complication. Furthermore, we analyzed the management of CMV reactivation in order to purpose criteria for pre-emptive therapy. Methods: Allogeneic HSCTs, performed at IRCCS Istituto Gaslini between 2012 and 2022, were included in this analysis. CMV–DNAemia was regularly monitored. Risk stratification was based on donor/recipient serological status and additional potential risk factors were considered: haploidentical transplant; any HSCT subsequent to the first; acute and chronic GvHD; steroids; and other immunosuppressive therapies. We described also the approach for pre-emptive therapy during the period 2012–2019. Results: A total of 214 allogeneic HSCTs were performed in 189 patients. In total, 100 (46.7%) HSCTs were complicated by at least one reactivation. CMV reactivation was significantly associated with high serological risk and steroid treatment. Pre-emptive therapy was administered in 59/69 (85.5%) HSCTs during 2012–2019. In the presence of predefined risk conditions, therapy was started at a median viremia of 2050 copies/mL. No difference was observed in OS between patients with CMV reactivation versus patients who did not present this complication. Conclusions: These results suggest the potential effectiveness of the approach used in providing pre-emptive therapy based on viral load monitoring and individualized risk factors. [ABSTRACT FROM AUTHOR]

Published
2024
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6. HLA‐haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working parties

Author

Giardino, Stefano, primary, Eikema, Dirk‐Jan, additional, Piepenbroek, Brian, additional, Algeri, Mattia, additional, Ayas, Mouhab, additional, Faraci, Maura, additional, Tbakhi, Abdelghani, additional, Zecca, Marco, additional, Essa, Mohammed, additional, Neven, Bénédicte, additional, Bertrand, Yves, additional, Kharya, Gaurav, additional, Bykova, Tatiana, additional, Lawson, Sarah, additional, Petrini, Mario, additional, Mohseny, Alexander, additional, Rialland, Fanny, additional, James, Beki, additional, Colita, Anca, additional, Fahd, Mony, additional, Cesaro, Simone, additional, Schulz, Ansgar, additional, Kleinschmidt, Katharina, additional, Kałwak, Krzysztof, additional, Corbacioglu, Selim, additional, Dufour, Carlo, additional, Risitano, Antonio, additional, and de Latour, Régis Peffault, additional

Published
2024
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7. Pneumocystis Pneumonia After Allogeneic Hematopoietic Cell Transplantation: A Case-Control Study on Epidemiology and Risk Factors on Behalf of the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation

Author

Robin, Christine, Cordonnier, Catherine, Tridello, Gloria, Knelange, Nina, Xhaard, Alienor, Chantepie, Sylvain, Tanguy-Schmidt, Aline, Schouten, Harry C., Yeshurun, Moshe, Rocha, Vanderson, Srour, Micha, Kröger, Nicolaus, Ledoux, Marie-Pierre, Dalgaard, Jakob, Thiebaut, Anne, Giardino, Stefano, Calore, Elisabetta, Zuckerman, Tsila, Groll, Andreas H., Raida, Ludek, Avcin, Simona, Vicent, Marta Gonzalez, Kaare, Ain, Drozd-Sokolowska, Joanna, Turlure, Pascal, Bretagne, Stéphane, Mikulska, Malgorzata, Camara, Rafael de la, Cesaro, Simone, and Styczynski, Jan

Published
2024
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8. Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series

Author

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.

Published
2024
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9. Incidence and outcome of Kaposi sarcoma after hematopoietic stem cell transplantation: a retrospective analysis and a review of the literature, on behalf of infectious diseases working party of EBMT

Author

Cesaro, Simone, Tridello, Gloria, van der Werf, Steffie, Bader, Peter, Sociè, Gerard, Ljungman, Per, McQuaker, Grant, Giardino, Stefano, Uckan-Cetinkaya, Duygu, Anagnostopoulos, Achilles, Ozdogu, Hakan, Schots, Rik, Jindra, Pavel, Ladetto, Marco, Schroyens, Wilfried, Mikulska, Malgorzata, and Styczynski, Jan

Published
2020
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10. Gonadal Function after Busulfan Compared with Treosulfan in Children and Adolescents Undergoing Allogeneic Hematopoietic Stem Cell Transplant

Author

Faraci, Maura, Diesch, Tamara, Labopin, Myriam, Dalissier, Arnaud, Lankester, Arian, Gennery, Andrew, Sundin, Mikael, Uckan-Cetinkaya, Duygu, Bierings, Marc, Peters, Anke M.J., Garwer, Martina, Schulz, Ansgar, Michel, Gerard, Giorgiani, Giovanna, Gruhn, Bernd, Locatelli, Franco, Giardino, Stefano, Uyttebroeck, Anne, Rialland, Fanny, Itäla-Remes, Maija, Dreger, Peter, Shaw, Peter J., Bordon, Victoria, Schlegel, Paul G., Mellgren, Karin, Moraleda, Jose M., Patrick, Katharine, Schneider, Pascale, Jubert, Charlotte, Lawitschka, Anita, Salooja, Nina, Basak, Grzegorz W., Corbacioglu, Selim, Duarte, Rafael, and Bader, Peter

Published
2019
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12. Pneumocystis pneumonia after allogeneic hematopoietic cell transplantation: A case-control study on epidemiology and risk factors on behalf of the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation

Author

Robin, Christine, primary, Cordonnier, Catherine, additional, Tridello, Gloria, additional, Knelange, Nina, additional, Xhaard, Alienor, additional, Chantepie, Sylvain, additional, Tanguy-Schmidt, Aline, additional, Schouten, Harry C, additional, Yesherun, Moshe, additional, Rocha, Vanderson, additional, Srour, Micha, additional, Kröger, Nicolaus, additional, Ledoux, Marie-Pierre, additional, Dalgaard, Jakob, additional, Thiebaut, Anne, additional, Giardino, Stefano, additional, Calore, Elisabetta, additional, Zuckerman, Tsila, additional, Groll, Andreas H, additional, Raida, Ludek, additional, Avcin, Simona, additional, Vicent, Marta Gonzalez, additional, Kaare, Ain, additional, Drozd-Sokolowska, Joanna, additional, Turlure, Pascal, additional, Bretagne, Stéphane, additional, Mikulska, Malgorzata, additional, Camara, Rafael de la, additional, Cesaro, Simone, additional, and Styczynski, Jan, additional

Published
2023
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14. Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy

Author

Messina, Chiara, Zecca, Marco, Fagioli, Franca, Rovelli, Attilio, Giardino, Stefano, Merli, Pietro, Porta, Fulvio, Aricò, Maurizio, Sieni, Elena, Basso, Giuseppe, Ripaldi, Mimmo, Favre, Claudio, Pillon, Marta, Marzollo, Antonio, Rabusin, Marco, Cesaro, Simone, Algeri, Mattia, Caniglia, Maurizio, Di Bartolomeo, Paolo, Ziino, Ottavio, Saglio, Francesco, Prete, Arcangelo, and Locatelli, Franco

Published
2018
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16. Mucositis and dysbiosis of the oral microbiome and fecal microbial flora in pediatric and young adult patients undergoing allogeneic Hematopoietic Stem Cell Transplantation

Author

Faraci, Maura, primary, Bonaretti, Carola, additional, Dell’Orso, Gianluca, additional, Pierri, Filomena, additional, Giardino, Stefano, additional, Angiero, Francesca, additional, Blasi, Sergio, additional, Farronato, Giampietro, additional, Marco, Eddi Di, additional, Trevisiol, Andrea, additional, Olcese, Evelina, additional, Rufino, Loris, additional, Squillario, Margherita, additional, and Biassoni, Roberto, additional

Published
2023
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19. Haploidentical hematopoietic stem cell transplantation as individual treatment option in pediatric patients with very high-risk sarcomas

Author

Eichholz, Thomas, primary, Döring, Michaela, additional, Giardino, Stefano, additional, Gruhn, Bernd, additional, Seitz, Christian, additional, Flaadt, Tim, additional, Schwinger, Wolfgang, additional, Ebinger, Martin, additional, Holzer, Ursula, additional, Mezger, Markus, additional, Teltschik, Heiko-Manuel, additional, Sparber-Sauer, Monika, additional, Koscielniak, Ewa, additional, Abele, Michael, additional, Handgretinger, Rupert, additional, and Lang, Peter, additional

Published
2023
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20. Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience

Author

Dell’Orso, Gianluca, primary, Bagnasco, Francesca, additional, Giardino, Stefano, additional, Pierri, Filomena, additional, Ferrando, Giulia, additional, Di Martino, Daniela, additional, Micalizzi, Concetta, additional, Guardo, Daniela, additional, Volpi, Stefano, additional, Sabatini, Federica, additional, Miano, Maurizio, additional, Gattorno, Marco, additional, Dufour, Carlo, additional, and Faraci, Maura, additional

Published
2023
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22. HLA-Haploidentical Stem Cell Transplantation in Children with Inherited Bone Marrow Failure Syndromes: A Retrospective Analysis on Behalf of EBMT Severe Aplastic Anemia Working Party

Author

Giardino, Stefano, primary, Eikema, Dirk-Jan, additional, Piepenbroek, Brian, additional, Algeri, Mattia, additional, Ayas, Mouhab, additional, Faraci, Maura, additional, Tbakhi, Abdelghani, additional, Zecca, Marco, additional, Essa, Mohammed, additional, Neven, Bénédicte, additional, Bertrand, Yves, additional, Kharya, Gaurav, additional, Bykova, Tatiana A, additional, Lawson, Sarah, additional, Petrini, Mario, additional, Mohseny, Alexander, additional, Rialland, Fanny, additional, James, Beki, additional, Colita, Anca, additional, Fahd, Mony, additional, Cesaro, Simone, additional, Schulz, Ansgar, additional, Dufour, Carlo, additional, Risitano, Antonio, additional, and Peffault de Latour, Régis, additional

Published
2022
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26. Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The “Fil Rouge” of Treg Between IPEX Features and Other Clinical Entities?

Author

Gentile, Micaela, primary, Miano, Maurizio, additional, Terranova, Paola, additional, Giardino, Stefano, additional, Faraci, Maura, additional, Pierri, Filomena, additional, Drago, Enrico, additional, Verzola, Daniela, additional, Ghiggeri, Gianmarco, additional, Verrina, Enrico, additional, Angeletti, Andrea, additional, Cafferata, Barbara, additional, Grossi, Alice, additional, Ceccherini, Isabella, additional, Caridi, Gianluca, additional, Lugani, Francesca, additional, Nescis, Lorenzo, additional, Fiaccadori, Enrico, additional, Lanino, Luca, additional, Fenoglio, Daniela, additional, and La Porta, Edoardo, additional

Published
2022
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27. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN ARPC1B DEFICIENCY

Author

Giardino, Stefano, primary, Volpi, Stefano, additional, Lucioni, Federica, additional, Caorsi, Roberta, additional, Schneiderman, Jennifer, additional, Lang, Abigail, additional, Khojah, Amer, additional, Kuijpers, Taco, additional, Papadatou, Ionanna, additional, Paisiou, Anna, additional, Alonso, Laura, additional, Schulz, Ansgar, additional, Nufar, Marcus, additional, Gattorno, Marco, additional, and Faraci, Maura, additional

Published
2022
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28. Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation

Author

Papa, Riccardo, primary, Rusmini, Marta, additional, Volpi, Stefano, additional, Dell’Orso, Gianluca, additional, Giarratana, Maria Carla, additional, Caorsi, Roberta, additional, Giardino, Stefano, additional, Bocca, Paola, additional, Barone, Patrizia, additional, Severino, Mariasavina, additional, Ceccherini, Isabella, additional, Gattorno, Marco, additional, and Faraci, Maura, additional

Published
2021
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32. Stem Cell Transplantation for Diamond–Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Author

Miano, Maurizio, Eikema, Dirk Jan, de la Fuente, Josu, Bosman, Paul, Ghavamzadeh, Ardeshir, Smiers, Frans, Sengeløv, Henrik, Yesilipek, Akif, Formankova, Renata, Bader, Peter, Díaz Pérez, Miguel Ángel, Bertrand, Yves, Niemeyer, Charlotte, Diallo, Safiatou, Ansari, Marc, Bykova, Tatiana A., Faraci, Maura, Bonanomi, Sonia, Gozdzik, Jolanta, Satti, Tariq Mahmood, Bodova, Ivana, Wölfl, Matthias, Rocha, Vanderson G., Mellgren, Karin, Rascon, Jelena, Holter, Wolfgang, Lange, Andrzej, Meisel, Roland, Beguin, Yves, Mozo, Yasmina, Kriván, Gergely, Sirvent, Anne, Bruno, Benedicte, Dalle, Jean Hugues, Onofrillo, Daniela, Giardino, Stefano, Risitano, Antonio M., de Latour, Régis Peffault, Dufour, Carlo, Miano, Maurizio, Eikema, Dirk Jan, de la Fuente, Josu, Bosman, Paul, Ghavamzadeh, Ardeshir, Smiers, Frans, Sengeløv, Henrik, Yesilipek, Akif, Formankova, Renata, Bader, Peter, Díaz Pérez, Miguel Ángel, Bertrand, Yves, Niemeyer, Charlotte, Diallo, Safiatou, Ansari, Marc, Bykova, Tatiana A., Faraci, Maura, Bonanomi, Sonia, Gozdzik, Jolanta, Satti, Tariq Mahmood, Bodova, Ivana, Wölfl, Matthias, Rocha, Vanderson G., Mellgren, Karin, Rascon, Jelena, Holter, Wolfgang, Lange, Andrzej, Meisel, Roland, Beguin, Yves, Mozo, Yasmina, Kriván, Gergely, Sirvent, Anne, Bruno, Benedicte, Dalle, Jean Hugues, Onofrillo, Daniela, Giardino, Stefano, Risitano, Antonio M., de Latour, Régis Peffault, and Dufour, Carlo

Abstract

Data on stem cell transplantation (SCT) for Diamond–Blackfan Anemia (DBA) is limited. We studied patients transplanted for DBA and registered in the EBMT database. Between 1985 and 2016, 106 DBA patients (median age, 6.8 years) underwent hematopoietic stem cell transplantation from matched-sibling donors (57%), unrelated donors (36%), or other related donors (7%), using marrow (68%), peripheral blood stem cells (20%), both marrow and peripheral blood stem cells (1%), or cord blood (11%). The cumulative incidence of engraftment was 86% (80% to 93%), and neutrophil recovery and platelet recovery were achieved on day +18 (range, 16 to 20) and +36 (range, 32 to 43), respectively. Three-year overall survival and event-free survival were 84% (77% to 91%) and 81% (74% to 89%), respectively. Older patients were significantly more likely to die (hazard ratio, 1.4; 95% confidence interval, 1.06 to 1.23; P <.001). Outcomes were similar between sibling compared to unrelated-donor transplants. The incidence of acute grades II to IV of graft-versus-host disease (GVHD) was 30% (21% to 39%), and the incidence of extensive chronic GVHD was 15% (7% to 22%). This study shows that SCT may represent an alternative therapeutic option for transfusion-dependent younger patients.

Published
2021

35. Stem Cell Transplantation for Diamond–Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Author

Miano, Maurizio, primary, Eikema, Dirk-Jan, additional, de la Fuente, Josu, additional, Bosman, Paul, additional, Ghavamzadeh, Ardeshir, additional, Smiers, Frans, additional, Sengeløv, Henrik, additional, Yesilipek, Akif, additional, Formankova, Renata, additional, Bader, Peter, additional, Díaz Pérez, Miguel Ángel, additional, Bertrand, Yves, additional, Niemeyer, Charlotte, additional, Diallo, Safiatou, additional, Ansari, Marc, additional, Bykova, Tatiana A, additional, Faraci, Maura, additional, Bonanomi, Sonia, additional, Gozdzik, Jolanta, additional, Satti, Tariq Mahmood, additional, Bodova, Ivana, additional, Wölfl, Matthias, additional, Rocha, Vanderson G., additional, Mellgren, Karin, additional, Rascon, Jelena, additional, Holter, Wolfgang, additional, Lange, Andrzej, additional, Meisel, Roland, additional, Beguin, Yves, additional, Mozo, Yasmina, additional, Kriván, Gergely, additional, Sirvent, Anne, additional, Bruno, Benedicte, additional, Dalle, Jean Hugues, additional, Onofrillo, Daniela, additional, Giardino, Stefano, additional, Risitano, Antonio M., additional, de Latour, Régis Peffault, additional, and Dufour, Carlo, additional

Published
2021
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43. 131 I‐Meta‐iodobenzylguanidine followed by busulfan and melphalan and autologous stem cell rescue in high‐risk neuroblastoma

Author

Giardino, Stefano, primary, Piccardo, Arnoldo, additional, Conte, Massimo, additional, Puntoni, Matteo, additional, Bertelli, Enrica, additional, Sorrentino, Stefania, additional, Montera, Mariapina, additional, Risso, Marco, additional, Caviglia, Ilaria, additional, Altrinetti, Vania, additional, Lanino, Edoardo, additional, Faraci, Maura, additional, and Garaventa, Alberto, additional

Published
2020
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44. Multifactorial Posterior Reversible Encephalopathy Syndrome in Children: Clinical, Laboratory, and Neuroimaging Findings

Author

Morana, Giovanni, additional, Bagnasco, Francesca, additional, Leoni, Massimiliano, additional, Pasquini, Luca, additional, Gueli, Ilaria, additional, Tortora, Domenico, additional, Severino, Mariasavina, additional, Giardino, Stefano, additional, Pierri, Filomena, additional, Micalizzi, Concetta, additional, Verrina, Enrico, additional, Ravelli, Angelo, additional, Mancardi, Maria Margherita, additional, Rossi, Andrea, additional, and Faraci, Maura, additional

Published
2020
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45. 131I-Meta-iodobenzylguanidine followed by Busulfan and Melphalan and autologous stem cell transplantation in high-risk neuroblastoma

Author

Giardino, Stefano, primary, Piccardo, Arnoldo, additional, Conte, Massimo, additional, Puntoni, Matteo, additional, Bertelli, Enrica, additional, Sorrentino, Stefania, additional, Montera, Mariapina, additional, Risso, Marco, additional, Caviglia, Ilaria, additional, Altrinetti, Vania, additional, Lanino, Edoardo, additional, Faraci, Maura, additional, and Garaventa, Alberto, additional

Published
2020
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48. Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.

Author

Papa, Riccardo, Rusmini, Marta, Volpi, Stefano, Dell'Orso, Gianluca, Giarratana, Maria Carla, Caorsi, Roberta, Giardino, Stefano, Bocca, Paola, Barone, Patrizia, Severino, Mariasavina, Ceccherini, Isabella, Gattorno, Marco, Faraci, Maura, and Riggioni, Carmen

Subjects
HEMATOPOIETIC stem cell transplantation, AUTOINFLAMMATORY diseases, PANCYTOPENIA, IMMUNE reconstitution inflammatory syndrome, CONGENITAL disorders, ANTERIOR eye segment, TYPE I interferons
Abstract

The absence of acute graft-versus-host disease and the low acute toxicity displayed by our patient after alpha/beta/CD19-depleted haplo-HSCT may suggest this approach as a valid therapeutic strategy. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression. Keywords: interferon; leukoencephalopathy; primary immunodeficiency; SAMD9L; transplantation EN interferon leukoencephalopathy primary immunodeficiency SAMD9L transplantation 1 4 4 01/05/22 20220101 NES 220101 I To the Editor, i Interferonopathies are a growing group of rare monogenic autoinflammatory diseases characterized by overexpression of type I interferon-stimulated genes (ISG).1 Sterile alpha motif domain-containing protein 9 (SAMD9) and SAMD9-like protein (SAMD9L) are well-known ISG and cell proliferation antagonists whose mutations have been associated with various disorders (Table 1). Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy. [Extracted from the article]

Published
2022
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50. Incidence and outcome of kaposi sarcoma after hsct: A retrospective analysis on behalf of IDWP

Author

Cesaro, Simone, Minniti, Federica, Werf, Steffie, Tridello, Gloria, Bader, Peter, Socie, Gerard, Ljungman, Per, Mcquaker, Grant, Giardino, Stefano, Uckan-Cetinkaya, Duygu, Anagnostopoulos, Achilles, HAKAN ÖZDOĞU, Schots, Rik, Jindra, Pavel, Ladetto, Marco, Schroyens, Wilfried, Mikulska, Malgorzata, Styczynski, Jan, Clinical sciences, Laboratory of Molecullar and Cellular Therapy, and Hematology

Abstract

not available

Published
2019

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