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1. SSSD: Simply-Scalable Speculative Decoding

Author

Marzollo, Michele, Zhuang, Jiawei, Roemer, Niklas, Müller, Lorenz K., and Cavigelli, Lukas

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence, Computer Science - Machine Learning, I.2.7
Abstract

Over the past year, Speculative Decoding has gained popularity as a technique for accelerating Large Language Model inference. While several methods have been introduced, most struggle to deliver satisfactory performance at batch sizes typical for data centers ($\geq 8$) and often involve significant deployment complexities. In this work, we offer a theoretical explanation of how Speculative Decoding can be effectively utilized with larger batch sizes. We also introduce a method that integrates seamlessly into existing systems without additional training or the complexity of deploying a small LLM. In a continuous batching setting, we achieve a 4x increase in throughput without any latency impact for short context generation, and a 1.7-2x improvement in both latency and throughput for longer contexts., Comment: 14 pages, 7 figures

Published
2024

2. Impact of a two step antimicrobial stewardship program in a paediatric haematology and oncology unit

Author

Cecilia Liberati, Elisa Barbieri, Francesca Cavagnero, Maria Grazia Petris, Giulia Brigadoi, Giulia Reggiani, Marica De Pieri, Marta Pierobon, Antonio Marzollo, Maria Gabelli, Sabrina Trivellato, Erika Rigotti, Francesca Opri, Daniele Mengato, Francesca Venturini, Ettore De Canale, Claudia Del Vecchio, Carlo Giaquinto, Elena Carrara, Evelina Tacconelli, Alessandra Biffi, and Daniele Donà

Subjects
Antimicrobial stewardship, Pediatric Oncology Haematology, Stem cell transplantation, Antibiotics., Medicine, Science
Abstract

Abstract Objective: To describe the implementation of a multi-step antimicrobial stewardship program in a haemato-oncology and stem cell transplantation program unit. Methods: Pre-post quasi-experimental study with two interrupted time-series analyses, conducted between 01/01/2019 and 31/12/2022 in the Paediatric Haemato-Oncology Unit of the Padua Paediatric Hospital. The interventions were: (1) 02/2020: dissemination of febrile neutropenia clinical pathways, (2) April 2021: provision of the clinical pathways via a customized App (Firstline.org) and implementation of a twice-a-week prospective audit and feedback. The main outcome was antibiotic consumption measured by days of administered therapy (DOTs)/1000 patients’ days for all antibiotics and most used molecules. Results: The first intervention (clinical pathways) resulted in a decrease in the overall antibiotic use by the haemato-oncology unit, with an abrupt reduction of 3-gen cephalosporins in favor of piperacillin-tazobactam, as indicated by the clinical pathways. Meropenem and glycopeptide use did not vary. The second intervention (antimicrobial stewardship) further decreased total antibiotic consumption, and a significant decline in meropenem, amikacin, and glycopeptides was achieved. Conclusions: Multi-step stewardship based on guidelines dissemination, multidisciplinary team intervention and collaboration (“handshake” stewardship) was highly effective in optimizing guidelines adherence and reducing overprescriptions in a fragile patient cohort.

Published
2024
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4. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Author

Rossini, Linda, Ricci, Silvia, Montin, Davide, Azzari, Chiara, Gambineri, Eleonora, Tellini, Marco, Conti, Francesca, Pession, Andrea, Saettini, Francesco, Naviglio, Samuele, Valencic, Erica, Magnolato, Andrea, Baselli, Lucia, Azzolini, Sara, Consolini, Rita, Leonardi, Lucia, D’Alba, Irene, Carraro, Elisa, Romano, Roberta, Melis, Daniela, Stagi, Stefano, Cirillo, Emilia, Giardino, Giuliana, Biffi, Alessandra, Pignata, Claudio, Putti, Maria Caterina, and Marzollo, Antonio

Published
2024
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7. A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association

Author

Roncareggi, Samuele, Girardi, Katia, Fioredda, Francesca, Pedace, Lucia, Arcuri, Luca, Badolato, Raffaele, Bonanomi, Sonia, Borlenghi, Erika, Cirillo, Emilia, Coliva, Tiziana, Consonni, Filippo, Conti, Francesca, Farruggia, Piero, Gambineri, Eleonora, Guerra, Fabiola, Locatelli, Franco, Mancuso, Gaia, Marzollo, Antonio, Masetti, Riccardo, Micalizzi, Concetta, Onofrillo, Daniela, Piccini, Matteo, Pignata, Claudio, Raddi, Marco Gabriele, Santini, Valeria, Vendemini, Francesca, Biondi, Andrea, and Saettini, Francesco

Published
2023
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8. Fosfomycin-Containing Regimens for the Treatment of Central Nervous System Infections in a Neonatal Intensive Care Unit: A Case Series Study

Author

Angelica Lenzi, Barbara Saccani, Marco Di Gregorio, Francesco Rossini, Alessio Sollima, Alice Mulè, Federica Morucci, Silvia Amadasi, Benedetta Fumarola, Paola Antonia Lanza, Silvia Lorenzotti, Evelyn Van Hauwermeiren, Elisa Cavalleri, Roberto Marzollo, Alberto Matteelli, Liana Signorini, and Francesco Maria Risso

Subjects
fosfomycin, central nervous system, CNS infections, meningitis, neonatal intensive care unit, NICU, Therapeutics. Pharmacology, RM1-950
Abstract

Central nervous system infections are among the most severe infectious conditions in the neonatal period and are still burdened by significant mortality, especially in preterm infants and those with a low birth weight or other comorbidities. In this study, we examined the role of fosfomycin-containing antibiotic regimens in neonates with central nervous system infections. We included six neonates over a period of five years: four with meningitis and two with cerebral abscesses. All patients underwent fosfomycin therapy after failing first-line antibiotic regimens. Of the six neonates, two died; two developed neurological and psychomotor deficits and two recovered uneventfully. None of the neonates experienced adverse reactions to fosfomycin, confirming the safety of the molecule in this population. In conclusion, the deep penetration in the central nervous system, the unique mechanism of action, the synergy with other antibiotic therapies, and the excellent safety profile all make fosfomycin an attractive drug for the treatment of neonatal central nervous system infections.

Published
2024
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9. Impact of newborn screening for SCID on the management of congenital athymia

Author

Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, and Kreins, Alexandra Y.

Published
2024
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10. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

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

Published
2023
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11. A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION

Author

Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Lucia Pedace, Luca Arcuri, Raffaele Badolato, Sonia Bonanomi, Erika Borlenghi, Emilia Cirillo, Tiziana Coliva, Filippo Consonni, Francesca Conti, Piero Farruggia, Eleonora Gambineri, Fabiola Guerra, Gaia Mancuso, Antonio Marzollo, Riccardo Masetti, Concetta Micalizzi, Daniela Onofrillo, Claudio Pignata, Valeria Santini, Francesca Vendemini, Andrea Biondi, and Francesco Saettini

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published
2023
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12. Long term use of eltrombopag in children with chronic immune thrombocytopenia: extended real life retrospective multicenter experience of the Italian Association of Pediatric Hematology and Oncology

Author

Paola Giordano, Giuseppe Lassandro, Angelica Barone, Simone Cesaro, Ilaria Fotzi, Fiorina Giona, Chiara Gorio, Angela Maggio, Maurizio Miano, Antonio Marzollo, Margherita Nardi, Andrea Pession, Antonio Ruggiero, Giovanna Russo, Paola Saracco, Marco Spinelli, Alessandra Tolva, Assunta Tornesello, Valentina Palladino, and Giovanni Carlo Del Vecchio

Subjects
immune thrombocytopenia, eltrombopag, children, thrombopoietin receptor agonists, bleeding disorders, Medicine (General), R5-920
Abstract

BackgroundThe present multicenter retrospective study on eltrombopag administration in Italian children with chronic ITP aims to extend follow-up of our previous study.Materials and methodsThis retrospective multicenter study was conducted in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). Patients were classified into three subgroups: group 1 included patients who discontinued treatment due to a stable platelet count; group 2 included patients who discontinued treatment due to ineffectiveness; group 3 included patients who did not permanently discontinue treatment.Results56 patients were eligible for analysis. The median duration of eltrombopag treatment was 40 months (7–71 months). Twenty patients (36%) discontinued permanently eltrombopag. The reasons of permanent discontinuation were adverse effects (n = 1), inefficacy (n = 10), stable platelet count (n = 9). All patients of group 1 maintained a durable response without additional treatments after eltrombopag discontinuation. We found that patients of group 2 were on treatment for less time (median treatment time: 13.5 months, min: 6.0 – max: 56.0) than patients of group 1 (median treatment time: 34 months, min: 16.0 – max: 62.0) (p

Published
2023
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13. The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)

Author

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

Published
2022
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15. Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia

Author

Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, and Luigi Tarani

Subjects
Kabuki syndrome, Evans syndrome, autoimmunity, immunodeficiency, hypogammaglobulinemia, immune dysregulation, Pediatrics, RJ1-570
Abstract

Kabuki syndrome (KS) is a rare multisystemic disease due to mutations in the KMT2D or KDM6A genes, which act as epigenetic modulators of different processes, including immune response. The syndrome is characterized by anomalies in multiple organ systems, and it is associated with autoimmune and inflammatory disorders, and an underlying immunological phenotype characterized by immunodeficiency and immune dysregulation. Up to 17% of KS patients present with immune thrombocytopenia characterized by a severe, chronic or relapsing course, and often associated to other hematological autoimmune diseases including autoimmune hemolytic anemia, eventually resulting in Evans syndrome (ES). A 23-year-old woman, clinically diagnosed with KS and presenting from the age of 3 years with ES was referred to the Rare Diseases Centre of our Pediatric Department for corticosteroid-induced hyperglycemia. Several ES relapses and recurrent respiratory infections in the previous years were reported. Severe hypogammaglobulinemia, splenomegaly and signs of chronic lung inflammation were diagnosed only at the time of our observation. Supportive treatment with amoxicillin-clavulanate prophylaxis and recombinant human hyaluronidase-facilitated subcutaneous immunoglobulin replacement were immediately started. In KS patients, the failure of B-cell development and the lack of autoreactive immune cells suppression can lead to immunodeficiency and autoimmunity that may be undiagnosed for a long time. Our patient's case is paradigmatic since she presented with preventable morbidity and severe lung disease years after disease onset. This case emphasizes the importance of suspecting immune dysregulation in KS. Pathogenesis and immunological complications of KS are discussed. Moreover, the need to perform immunologic evaluations is highlighted both at the time of KS diagnosis and during disease follow-up, in order to allow proper treatment while intercepting avoidable morbidity in these patients.

Published
2023
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16. Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

Author

Baronio, Manuela, Saettini, Francesco, Gazzurelli, Luisa, Rossi, Stefano, Marzollo, Antonio, Ricci, Silvia, Zama, Daniele, Palterer, Boaz, Clementina, Canessa, Lorenzo, Lodi, Chiarini, Marco, Sottini, Alessandra, Imberti, Luisa, Gorio, Chiara, Rossini, Linda, Badolato, Raffaele, Plebani, Alessandro, Moratto, Daniele, and Lougaris, Vassilios

Published
2022
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17. Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature

Author

Marzollo, Antonio, Conti, Francesca, Rossini, Linda, Rivalta, Beatrice, Leonardi, Lucia, Tretti, Caterina, Tosato, Francesca, Chiriaco, Maria, Ursu, Giorgiana Madalina, Natalucci, Cristina Tea, Martella, Maddalena, Borghesi, Alessandro, Mancini, Cecilia, Ciolfi, Andrea, di Matteo, Gigliola, Tartaglia, Marco, Cancrini, Caterina, Dotta, Andrea, Biffi, Alessandra, Finocchi, Andrea, and Bresolin, Silvia

Published
2022
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18. Adesão à terapia antirretroviral de pessoas vivendo com HIV/aids em Florianópolis, Santa Catarina, Brasil

Author

Marcos Paulo Marzollo Maria, Maitê Peres de Carvalho, and Anaclaudia Gastal Fassa

Subjects
Síndrome de Imunodeficiência Adquirida, HIV, Terapia Antirretroviral de Alta Atividade, Adesão à Medicação, Medicine, Public aspects of medicine, RA1-1270
Abstract

A adesão à terapia antirretroviral (TARV) é fundamental para obter o controle da infecção por HIV, evitando complicações clínicas e o desenvolvimento de cepas de HIV resistentes. Vários municípios brasileiros estão comprometidos com a meta 90-90-90, que prevê que 90% dos casos de HIV/aids sejam diagnosticados, que 90% destes estejam em tratamento e, destes, 90% alcancem a supressão viral. Entretanto, existem apenas três estudos brasileiros que avaliam a adesão à TARV a partir de dados secundários de dispensação. Este estudo objetivou estimar a prevalência de adesão ao tratamento no Município de Florianópolis, Santa Catarina, Brasil, examinando sua associação com aspectos demográficos, de utilização de saúde e características clínicas. Realizou-se um estudo transversal com o uso de dados secundários do prontuário eletrônico e dados nacionais, dos Sistema de Controle Logístico de Medicamentos (SICLOM) e Sistema de Controle de Exames Laboratoriais (SISCEL), de pessoas vivendo com HIV/aids no município de abril de 2020 a março de 2021. A prevalência de adesão à TARV foi de cerca de 85%. Pessoas brancas, do sexo masculino, que tinham acompanhamento tanto na atenção primária à saúde (APS) quanto na atenção secundária tinham maior adesão ao tratamento. A idade e o número de consultas apresentaram associação direta com adesão à TARV. O processo de descentralização do cuidado ao usuário vivendo com HIV/aids é o caminho para uma assistência mais integral, porém desafios técnicos e éticos ainda precisam ser enfrentados. A qualificação profissional, o correto referenciamento com articulação em rede e a atenção às questões de sigilo e confidencialidade precisam ser reforçadas de forma a ampliar a adesão ao tratamento.

Published
2023
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20. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

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

Published
2021
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21. 'CHildren with Inherited Platelet disorders Surveillance' (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)

Author

Giuseppe Lassandro, Valentina Palladino, Michela Faleschini, Angelica Barone, Gianluca Boscarol, Simone Cesaro, Elena Chiocca, Piero Farruggia, Fiorina Giona, Chiara Gorio, Angela Maggio, Maddalena Marinoni, Antonio Marzollo, Giuseppe Palumbo, Giovanna Russo, Paola Saracco, Marco Spinelli, Federico Verzegnassi, Francesca Morga, Anna Savoia, and Paola Giordano

Subjects
inherited thrombocytopenia, platelet, bleeding diseases/disorders, children, congenital thrombocytopenia, Pediatrics, RJ1-570
Abstract

AbstractBackgroundInherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia.Material and methods“CHildren with Inherited Platelet disorders Surveillance” study (CHIPS) is a retrospective – prospective observational cohort study conducted between January 2003 and January 2022 in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). The primary objective of this study was to collect clinical and laboratory data on Italian pediatric patients with inherited thrombocytopenias. Secondary objectives were to calculate prevalence of ITs in Italian pediatric population and to assess frequency and genotype–phenotype correlation of different types of mutations in our study cohort.ResultsA total of 139 children, with ITs (82 male - 57 female) were enrolled. ITs prevalence in Italy ranged from 0.7 per 100,000 children during 2010 to 2 per 100,000 children during 2022. The median time between the onset of thrombocytopenia and the diagnosis of ITs was 1 years (range 0 - 18 years). A family history of thrombocytopenia has been reported in 90 patients (65%). Among 139 children with ITs, in 73 (53%) children almost one defective gene has been identified. In 61 patients a pathogenic mutation has been identified. Among them, 2 patients also carry a variant of uncertain significance (VUS), and 4 others harbour 2 VUS variants. VUS variants were identified in further 8 patients (6%), 4 of which carry more than one variant VUS. Three patients (2%) had a likely pathogenic variant while in 1 patient (1%) a variant was identified that was initially given an uncertain significance but was later classified as benign. In addition, in 17 patients the genetic diagnosis is not available, but their family history and clinical/laboratory features strongly suggest the presence of a specific genetic cause. In 49 children (35%) no genetic defect were identified. In ninetyseven patients (70%), thrombocytopenia was not associated with other clinically apparent disorders. However, 42 children (30%) had one or more additional clinical alterations.ConclusionOur study provides a descriptive collection of ITs in the pediatric Italian population.

Published
2022
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22. Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency

Author

Laura Zanatta, Francesca Biscaro, Silvia Bresolin, Maurizio Marzaro, Samantha Sarcognato, Ivana Cataldo, Antonio Marzollo, and Stefano Martelossi

Subjects
colitis, haploinsuffciency, HA20, anemia, TNFAIP 3, autoinflammatory diseases (AID), Pediatrics, RJ1-570
Abstract

Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype.

Published
2022
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24. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Author

Cananzi, Mara, Wohler, Elizabeth, Marzollo, Antonio, Colavito, Davide, You, Jing, Jing, Huie, Bresolin, Silvia, Gaio, Paola, Martin, Renan, Mescoli, Claudia, Bade, Sangeeta, Posey, Jennifer E., Dalle Carbonare, Maurizio, Tung, Wesley, Jhangiani, Shalini N., Bosa, Luca, Zhang, Yu, Filho, Joselito Sobreira, Gabelli, Maria, Kellermayer, Richard, Kader, Howard A., Oliva-Hemker, Maria, Perilongo, Giorgio, Lupski, James R., Biffi, Alessandra, Valle, David, Leon, Alberta, de Macena Sobreira, Nara Lygia, Su, Helen C., and Guerrerio, Anthony L.

Published
2021
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25. Impact of newborn screening for SCID on the management of congenital athymia

Author

Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, Kreins, Alexandra Y., Cluster B, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K., Worth, Austen, Davies, E. Graham, and Kreins, Alexandra Y.

Published
2024

26. Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Author

Marzollo, Antonio, Zampieri, Stefania, Barozzi, Serena, Yousaf, Muhammad Abrar, Quartararo, Jade, De Rocco, Daniela, Faleschini, Michela, Marconi, Caterina, Ceccatelli Berti, Camilla, Bozzi, Valeria, Russo, Giovanna, Giordano, Paola, Goffrini, Paola, Bresolin, Silvia, Pastore, Annalisa, Savoia, Anna, and Pecci, Alessandro

Subjects
*CYTOCHROME c, *THROMBOCYTOPENIA, *BLOOD platelet disorders, *PLATELET count, *ELECTRON transport, *MISSENSE mutation
Abstract

Summary: Thrombocytopenia 4 (THC4) is an autosomal‐dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency. In this study, we describe six Italian families with five different heterozygous missense CYCS variants: p.Gly42Ser and p.Tyr49His previously associated with THC4, and three novel variants (p.Ala52Thr, p.Arg92Gly, and p.Leu99Val), which have been classified as pathogenic by bioinformatics and segregation analyses. Moreover, we supported functional effects of p.Ala52Thr and p.Arg92Gly on oxidative growth and respiratory activity in a yeast model. The clinical characterization of the 22 affected individuals, the largest series of THC4 patients ever reported, showed that this disorder is characterized by mild‐to‐moderate thrombocytopenia, normal platelet size, and function, low risk of bleeding, and no additional clinical phenotypes associated with reduced platelet count. Finally, we describe a significant correlation between the region of CYCS affected by mutations and the extent of thrombocytopenia, which could reflect different degrees of impairment of CYCS functions caused by different pathogenetic variants. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Fosfomycin-Containing Regimens for the Treatment of Central Nervous System Infections in a Neonatal Intensive Care Unit: A Case Series Study.

Author

Lenzi, Angelica, Saccani, Barbara, Di Gregorio, Marco, Rossini, Francesco, Sollima, Alessio, Mulè, Alice, Morucci, Federica, Amadasi, Silvia, Fumarola, Benedetta, Lanza, Paola Antonia, Lorenzotti, Silvia, Van Hauwermeiren, Evelyn, Cavalleri, Elisa, Marzollo, Roberto, Matteelli, Alberto, Signorini, Liana, and Risso, Francesco Maria

Subjects
CENTRAL nervous system infections, LOW birth weight, NEONATAL intensive care units, NEONATAL intensive care, PREMATURE infants
Abstract

Central nervous system infections are among the most severe infectious conditions in the neonatal period and are still burdened by significant mortality, especially in preterm infants and those with a low birth weight or other comorbidities. In this study, we examined the role of fosfomycin-containing antibiotic regimens in neonates with central nervous system infections. We included six neonates over a period of five years: four with meningitis and two with cerebral abscesses. All patients underwent fosfomycin therapy after failing first-line antibiotic regimens. Of the six neonates, two died; two developed neurological and psychomotor deficits and two recovered uneventfully. None of the neonates experienced adverse reactions to fosfomycin, confirming the safety of the molecule in this population. In conclusion, the deep penetration in the central nervous system, the unique mechanism of action, the synergy with other antibiotic therapies, and the excellent safety profile all make fosfomycin an attractive drug for the treatment of neonatal central nervous system infections. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Author

Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B. Snapper, Thomas D. Walters, Alberta Leon, Anne M. Griffiths, Mara Cananzi, and Aleixo M. Muise

Subjects
Medicine, Science
Abstract

Abstract CARMIL2 is required for CD28-mediated co-stimulation of NF-κB signaling in T cells and its deficiency has been associated with primary immunodeficiency and, recently, very early onset inflammatory bowel disease (IBD). Here we describe the identification of novel biallelic CARMIL2 variants in three patients presenting with pediatric-onset IBD and in one with autoimmune polyendocrine syndrome (APS). None manifested overt clinical signs of immunodeficiency before their diagnosis. The first patient presented with very early onset IBD. His brother was found homozygous for the same CARMIL2 null variant and diagnosed with APS. Two other IBD patients were found homozygous for a nonsense and a missense CARMIL2 variant, respectively, and they both experienced a complicated postoperative course marked by severe infections. Immunostaining of bowel biopsies showed reduced CARMIL2 expression in all the three patients with IBD. Western blot and immunofluorescence of transfected cells revealed an altered expression pattern of the missense variant. Our work expands the genotypic and phenotypic spectrum of CARMIL2 deficiency, which can present with either IBD or APS, aside from classic immunodeficiency manifestations. CARMIL2 should be included in the diagnostic work-up of patients with suspected monogenic IBD.

Published
2021
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29. New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders

Author

Linda Rossini, Caterina Durante, Antonio Marzollo, and Alessandra Biffi

Subjects
lysosomal storage disorders (LSD), mucopolisacaridosis, Hunter disease, neuronal ceroid lipofucinosis, Batten disease, gene therapy (GT), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Lysosomal storage disorders (LSDs) are a heterogenous group of disorders due to genetically determined deficits of lysosomal enzymes. The specific molecular mechanism and disease phenotype depends on the type of storage material. Several disorders affect the brain resulting in severe clinical manifestations that substantially impact the expectancy and quality of life. Current treatment modalities for LSDs include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) from allogeneic healthy donors, but are available for a limited number of disorders and lack efficacy on several clinical manifestations. Hematopoietic stem cell gene therapy (HSC GT) based on integrating lentiviral vectors resulted in robust clinical benefit when administered to patients affected by Metachromatic Leukodystrophy, for whom it is now available as a registered medicinal product. More recently, HSC GT has also shown promising results in Hurler syndrome patients. Here, we discuss possible novel HSC GT indications that are currently under development. If these novel drugs will prove effective, they might represent a new standard of care for these disorders, but several challenges will need to be addresses, including defining and possibly expanding the patient population for whom HSC GT could be efficacious.

Published
2022
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30. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Author

Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Rivière, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Pérez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarström, Lennart, Dogu, Figen, Haskologlu, Sule, İkincioğulları, Aydan İ., Köstel Bal, Sevgi, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M.J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Avbelj Stefanija, Magdalena, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppänen, Mikko R.J., Lankester, Arjan, Gennery, Andrew R., and Seidel, Markus G.

Published
2020
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31. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Author

Saettini, Francesco, Herriot, Richard, Prada, Elisabetta, Nizon, Mathilde, Zama, Daniele, Marzollo, Antonio, Romaniouk, Igor, Lougaris, Vassilios, Cortesi, Manuela, Morreale, Alessia, Kosaki, Rika, Cardinale, Fabio, Ricci, Silvia, Domínguez-Garrido, Elena, Montin, Davide, Vincent, Marie, Milani, Donatella, Biondi, Andrea, Gervasini, Cristina, and Badolato, Raffaele

Published
2020
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33. Urogenital Abnormalities in Adenosine Deaminase Deficiency

Author

Pajno, Roberta, Pacillo, Lucia, Recupero, Salvatore, Cicalese, Maria P., Ferrua, Francesca, Barzaghi, Federica, Ricci, Silvia, Marzollo, Antonio, Pecorelli, Silvia, Azzari, Chiara, Finocchi, Andrea, Cancrini, Caterina, Di Matteo, Gigliola, Russo, Gianni, Alfano, Massimo, Lesma, Arianna, Salonia, Andrea, Adams, Stuart, Booth, Claire, and Aiuti, Alessandro

Published
2020
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34. GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Author

Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, and Anna Savoia

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2021
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35. Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant

Author

Antonio Marzollo, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio, Luca Bosa, Claudia Mescoli, Linda Rossini, Federica Barzaghi, Giorgio Perilongo, Alberta Leon, Alessandra Biffi, and Mara Cananzi

Subjects
inborn error of immunity, nodular lymphoid hyperplasia-GIT, activated PI3K-delta syndrome, novel variant, sirolimus, PIK3CD, Pediatrics, RJ1-570
Abstract

Nodular lymphoid hyperplasia (NLH) is a lymphoproliferative disease caused by non-clonal expansion of lymphoid cells in the gut mucosa. Little is known about the pathogenesis of NLH, which is often disregarded as an insignificant or para-physiologic phenomenon. We present the case of a girl with isolated diffuse NLH (extending from the stomach to the rectum) caused by activated PI3Kδ syndrome (APDS) due to the novel p.Glu525Gly variant in PIK3CD. The gain-of-function effect of the variant was confirmed by demonstration of over activation of the Akt/mTOR pathway in the patient's cells. APDS diagnosis led to treatment with sirolimus, which resulted in the complete remission of NLH and in the prevention of extra intestinal complications. In conclusion, we identify APDS as a novel cause of isolated NLH and suggest that patients with severe pan-enteric NLH should be screened for this disorder that may not be apparent on first-line immunological testing.

Published
2021
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36. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Author

Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, and Muise, Aleixo M.

Published
2021
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37. Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology.

Author

Russo, Giovanna, Parodi, Emilia, Farruggia, Piero, Notarangelo, Lucia D., Perrotta, Silverio, Casale, Maddalena, Cesaro, Simone, Del Borrello, Giovanni, Del Vecchio, Giovanni C., Giona, Fiorina, Gorio, Chiara, Ladogana, Saverio, Lassandro, Giuseppe, Marzollo, Antonio, Maslak, Karolina, Miano, Maurizio, Nardi, Margherita, Palumbo, Giuseppe, Rossi, Francesca, and Spinelli, Marco

Published
2024
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39. A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION

Author

Roncareggi, Samuele, primary, Girardi, Katia, additional, Fioredda, Francesca, additional, Pedace, Lucia, additional, Arcuri, Luca, additional, Badolato, Raffaele, additional, Bonanomi, Sonia, additional, Borlenghi, Erika, additional, Cirillo, Emilia, additional, Coliva, Tiziana, additional, Consonni, Filippo, additional, Conti, Francesca, additional, Farruggia, Piero, additional, Gambineri, Eleonora, additional, Guerra, Fabiola, additional, Mancuso, Gaia, additional, Marzollo, Antonio, additional, Masetti, Riccardo, additional, Micalizzi, Concetta, additional, Onofrillo, Daniela, additional, Pignata, Claudio, additional, Santini, Valeria, additional, Vendemini, Francesca, additional, Biondi, Andrea, additional, and Saettini, Francesco, additional

Published
2023
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40. 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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41. Robot-assisted splenectomy in a teenager with chronic autoimmune thrombocytopenia

Author

Silvia Bisoffi, Costanza Tognon, Laura Sainati, Antonio Marzollo, Michele Battistel, Francesco Fascetti Leon, and Piergiorgio Gamba

Subjects
Robot-assisted, Da vinci xi system, Splenectomy, Splenic embolization, Thrombocytopenia, Eltrombopag, Pediatrics, RJ1-570, Surgery, RD1-811
Abstract

The use of the Da Vinci Xi system is gaining popularity among all surgical disciplines. A splenectomy is a treatment option for patients with hematological disorders and splenic lesions. The laparoscopic approach is nowadays the standard of care. Despite the initial controversy, recently it has been demonstrated the superiority of robotic splenectomy performed in ''difficult'' cases. We report, to our knowledge, the first case of robot-assisted splenectomy following embolization of the splenic artery in a 15-year-old patient with chronic immune thrombocytopenia, worsened by a severe cerebral sinus thrombosis, while being treated with eltrombopag and mycophenolate. Due to the need for a rapid rise in platelet counts and failure of several medical treatments, splenectomy was advocated. To raise the platelet count pre-operatively and minimize intraoperative bleeding, the embolization of the spleen artery was performed before the planned splenectomy. The intervention was carried on without any complication and at 1 year follow up the patient is in good clinical condition and has improved his neurological condition. We propose a robotic splenectomy following embolization of the splenic artery as a feasible and safe procedure. The advantages of the Da Vinci Xi system are highlighted especially in complex cases, requiring maximum precision.

Published
2020
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42. Use of Eltrombopag in Children With Chronic Immune Thrombocytopenia (ITP): A Real Life Retrospective Multicenter Experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP)

Author

Paola Giordano, Giuseppe Lassandro, Angelica Barone, Simone Cesaro, Ilaria Fotzi, Fiorina Giona, Saverio Ladogana, Maurizio Miano, Antonio Marzollo, Margherita Nardi, Lucia Dora Notarangelo, Andrea Pession, Antonio Ruggiero, Giovanna Russo, Paola Saracco, Marco Spinelli, Alessandra Tolva, Assunta Tornesello, Valentina Palladino, and Giovanni Carlo Del Vecchio

Subjects
eltrombopag, children, immune thrombocytopenia, thrombopoietin receptor agonists, bleeding disorders, Medicine (General), R5-920
Abstract

Background: The thrombopoietin receptor agonist eltrombopag has been shown to be safe and effective for children with chronic immune thrombocytopenia (ITP). The aim of the present study was to characterize eltrombopag use in current clinical practice.Material and Methods: This is a retrospective multicenter study conducted in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). The primary objective of the study was to determine the prevalence of eltrombopag use in Italian children affected by chronic ITP, after EMA authorization for pediatric age. The secondary objective was to assess efficacy in the first 6 months and safety during the whole period of eltrombopag treatment in current clinical practice. A total of 386 children with chronic ITP were retrospectively enrolled and eligible for analysis. Among these patients, 71 received eltrombopag.Results: The prevalence of eltrombopag use was 19% (95% CI 0.15–0.23). Thirty-one patients (44%) were male and 40 patients (56%) were female. The median age at the first dose of eltrombopag was 12 years (3–17 years). The median duration of eltrombopag treatment was 11 months (1–32 months) and the median starting dose was 50 mg/day (12, 5–75 mg/day). Thirty-two patients (45%) required one or more concomitant ITP medications during the first 6 months of treatment with eltrombopag. Thirty-nine patients (55%) never required concomitant medications. Median platelet counts and proportion of patients achieving the target platelet count of at least 30 × 109/L and 100 × 109/L significantly increased during the first 6 months of treatment (p < 0.0001). Additionally, eltrombopag has been proved effective in the absence of concomitant therapies. The most common Adverse Events were headache (7%) and thrombocytosis (6%).Conclusion: Our study highlighted the crucial role of eltrombopag as second line treatment in children with chronic ITP.

Published
2020
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43. Impact of newborn screening for SCID on the management of congenital athymia

Author

Howley, Evey, primary, Golwala, Zainab, additional, Buckland, Matthew, additional, Barzaghi, Federica, additional, Ghosh, Sujal, additional, Hackett, Scott, additional, Hague, Rosie, additional, Hauck, Fabian, additional, Holzer, Ursula, additional, Klocperk, Adam, additional, Koskenvuo, Minna, additional, Marcus, Nufar, additional, Marzollo, Antonio, additional, Pac, Malgorzata, additional, Sinclair, Jan, additional, Speckmann, Carsten, additional, Soomann, Maarja, additional, Speirs, Lynne, additional, Suresh, Sneha, additional, Taque, Sophie, additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Wainstein, Brynn K., additional, Worth, Austen, additional, Davies, E. Graham, additional, and Kreins, Alexandra Y., additional

Published
2023
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44. A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure

Author

Ammeti, Daniele, primary, Marzollo, Antonio, additional, Gabelli, Maria, additional, Zanchetta, Melania Eva, additional, Tretti‐Parenzan, Caterina, additional, Bottega, Roberta, additional, Capaci, Valeria, additional, Biffi, Alessandra, additional, Savoia, Anna, additional, Bresolin, Silvia, additional, and Faleschini, Michela, additional

Published
2023
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45. Long term use of eltrombopag in children with chronic immune thrombocytopenia: extended real life retrospective multicenter experience of the Italian Association of Pediatric Hematology and Oncology

Author

Giordano, Paola, primary, Lassandro, Giuseppe, additional, Barone, Angelica, additional, Cesaro, Simone, additional, Fotzi, Ilaria, additional, Giona, Fiorina, additional, Gorio, Chiara, additional, Maggio, Angela, additional, Miano, Maurizio, additional, Marzollo, Antonio, additional, Nardi, Margherita, additional, Pession, Andrea, additional, Ruggiero, Antonio, additional, Russo, Giovanna, additional, Saracco, Paola, additional, Spinelli, Marco, additional, Tolva, Alessandra, additional, Tornesello, Assunta, additional, Palladino, Valentina, additional, and Del Vecchio, Giovanni Carlo, additional

Published
2023
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47. Bone Remodeling in an Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy

Author

Albina Tummolo, Giacomina Brunetti, Laura Piacente, Antonio Marzollo, Alessandra Biffi, Alberto Burlina, and Maria Felicia Faienza

Subjects
Endocrinology, Diabetes and Metabolism, Immunology and Allergy
Abstract

Background: Mucopolysaccharidosis-1H (Hurler syndrome, MPS-1H) is the most severe form of a lysosomal storage disorder (LSD) caused by variants in IDUA, encoding alpha- L-iduronidase (IDUA). MPS-1H is also associated with various degrees of skeletal defects due to the accumulation of partially degraded glycosaminoglycans (GAGs) in the lysosomes of connective tissue cells. The efficacy of hematopoietic stem cell transplantation (HSCT) and enzymatic replacement therapy (ERT) on MPS-1H skeletal manifestations is still considered unsatisfactory. Case presentation: We report the case of a young girl, who manifested significant changes in bone remodeling markers and osteoclastogenesis potential after HSCT combined with ERT. She received ERT and underwent two HSCTs. The skeletal alterations at the time of diagnosis showed a trend toward improvement of both mobility and radiological features after HSCT. We observed the highest levels of Receptor activator of nuclear factor-kappa-Β ligand (RANKL) and RANK/osteoprotegerin (OPG) ratio at diagnosis and during ERT, consistently with spontaneous osteoclastogenesis. Conversely, after the successful HSCT with ongoing ERT, the highest levels of osteocalcin were observed and all markers of bone formation and resorption improved. Conclusion: The combination therapy of ERT and HSCT was effective in reducing osteoclast activity and increasing osteoblast activity, and these changes were according to the child's bone phenotype, IDUA activity, and Glycosaminoglycan (GAG) trends. These results represent one of the few pieces of human evidence in this context.

Published
2022
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50. Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

Author

Gervais, Adrian, primary, Rovida, Francesca, additional, Avanzini, Maria Antonietta, additional, Croce, Stefania, additional, Marchal, Astrid, additional, Lin, Shih-Ching, additional, Ferrari, Alessandro, additional, Thorball, Christian W., additional, Constant, Orianne, additional, Le Voyer, Tom, additional, Philippot, Quentin, additional, Rosain, Jérémie, additional, Angelini, Micol, additional, Pérez Lorenzo, Malena, additional, Bizien, Lucy, additional, Achille, Cristian, additional, Trespidi, Francesca, additional, Burdino, Elisa, additional, Cassaniti, Irene, additional, Lilleri, Daniele, additional, Fornara, Chiara, additional, Sammartino, José Camilla, additional, Cereda, Danilo, additional, Marrocu, Chiara, additional, Piralla, Antonio, additional, Valsecchi, Chiara, additional, Ricagno, Stefano, additional, Cogo, Paola, additional, Neth, Olaf, additional, Marín-Cruz, Inés, additional, Pacenti, Monia, additional, Sinigaglia, Alessandro, additional, Trevisan, Marta, additional, Volpe, Andrea, additional, Marzollo, Antonio, additional, Conti, Francesca, additional, Lazzarotto, Tiziana, additional, Pession, Andrea, additional, Viale, Pierluigi, additional, Fellay, Jacques, additional, Ghirardello, Stefano, additional, Aubart, Mélodie, additional, Ghisetti, Valeria, additional, Aiuti, Alessandro, additional, Jouanguy, Emmanuelle, additional, Bastard, Paul, additional, Percivalle, Elena, additional, Baldanti, Fausto, additional, Puel, Anne, additional, MacDonald, Margaret R., additional, Rice, Charles M., additional, Rossini, Giada, additional, Murray, Kristy O., additional, Simonin, Yannick, additional, Nagy, Anna, additional, Barzon, Luisa, additional, Abel, Laurent, additional, Diamond, Michael S., additional, Cobat, Aurélie, additional, Zhang, Shen-Ying, additional, Casanova, Jean-Laurent, additional, and Borghesi, Alessandro, additional

Published
2023
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